NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients

(1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-g...
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Autor*in:	Katarzyna Aleksandra Jalowiec [verfasserIn] Kristina Vrotniakaite-Bajerciene [verfasserIn] Annina Capraru [verfasserIn] Tatiana Wojtovicova [verfasserIn] Raphael Joncourt [verfasserIn] Alicia Rovó [verfasserIn] Naomi A. Porret [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	erythrocytosis polycythemia NGS

Übergeordnetes Werk:	In: Genes - MDPI AG, 2010, 12(2021), 12, p 1951
Übergeordnetes Werk:	volume:12 ; year:2021 ; number:12, p 1951

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/genes12121951

Katalog-ID:	DOAJ069515476

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520			\|a (1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype.
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allfields	10.3390/genes12121951 doi (DE-627)DOAJ069515476 (DE-599)DOAJ354e7b797d43447bb7bb6a1f7b4f7de1 DE-627 ger DE-627 rakwb eng QH426-470 Katarzyna Aleksandra Jalowiec verfasserin aut NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype. erythrocytosis polycythemia NGS Genetics Kristina Vrotniakaite-Bajerciene verfasserin aut Annina Capraru verfasserin aut Tatiana Wojtovicova verfasserin aut Raphael Joncourt verfasserin aut Alicia Rovó verfasserin aut Naomi A. Porret verfasserin aut In Genes MDPI AG, 2010 12(2021), 12, p 1951 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:12, p 1951 https://doi.org/10.3390/genes12121951 kostenfrei https://doaj.org/article/354e7b797d43447bb7bb6a1f7b4f7de1 kostenfrei https://www.mdpi.com/2073-4425/12/12/1951 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 12, p 1951
spelling	10.3390/genes12121951 doi (DE-627)DOAJ069515476 (DE-599)DOAJ354e7b797d43447bb7bb6a1f7b4f7de1 DE-627 ger DE-627 rakwb eng QH426-470 Katarzyna Aleksandra Jalowiec verfasserin aut NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype. erythrocytosis polycythemia NGS Genetics Kristina Vrotniakaite-Bajerciene verfasserin aut Annina Capraru verfasserin aut Tatiana Wojtovicova verfasserin aut Raphael Joncourt verfasserin aut Alicia Rovó verfasserin aut Naomi A. Porret verfasserin aut In Genes MDPI AG, 2010 12(2021), 12, p 1951 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:12, p 1951 https://doi.org/10.3390/genes12121951 kostenfrei https://doaj.org/article/354e7b797d43447bb7bb6a1f7b4f7de1 kostenfrei https://www.mdpi.com/2073-4425/12/12/1951 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 12, p 1951
allfields_unstemmed	10.3390/genes12121951 doi (DE-627)DOAJ069515476 (DE-599)DOAJ354e7b797d43447bb7bb6a1f7b4f7de1 DE-627 ger DE-627 rakwb eng QH426-470 Katarzyna Aleksandra Jalowiec verfasserin aut NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype. erythrocytosis polycythemia NGS Genetics Kristina Vrotniakaite-Bajerciene verfasserin aut Annina Capraru verfasserin aut Tatiana Wojtovicova verfasserin aut Raphael Joncourt verfasserin aut Alicia Rovó verfasserin aut Naomi A. Porret verfasserin aut In Genes MDPI AG, 2010 12(2021), 12, p 1951 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:12, p 1951 https://doi.org/10.3390/genes12121951 kostenfrei https://doaj.org/article/354e7b797d43447bb7bb6a1f7b4f7de1 kostenfrei https://www.mdpi.com/2073-4425/12/12/1951 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 12, p 1951
allfieldsGer	10.3390/genes12121951 doi (DE-627)DOAJ069515476 (DE-599)DOAJ354e7b797d43447bb7bb6a1f7b4f7de1 DE-627 ger DE-627 rakwb eng QH426-470 Katarzyna Aleksandra Jalowiec verfasserin aut NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype. erythrocytosis polycythemia NGS Genetics Kristina Vrotniakaite-Bajerciene verfasserin aut Annina Capraru verfasserin aut Tatiana Wojtovicova verfasserin aut Raphael Joncourt verfasserin aut Alicia Rovó verfasserin aut Naomi A. Porret verfasserin aut In Genes MDPI AG, 2010 12(2021), 12, p 1951 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:12, p 1951 https://doi.org/10.3390/genes12121951 kostenfrei https://doaj.org/article/354e7b797d43447bb7bb6a1f7b4f7de1 kostenfrei https://www.mdpi.com/2073-4425/12/12/1951 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 12, p 1951
allfieldsSound	10.3390/genes12121951 doi (DE-627)DOAJ069515476 (DE-599)DOAJ354e7b797d43447bb7bb6a1f7b4f7de1 DE-627 ger DE-627 rakwb eng QH426-470 Katarzyna Aleksandra Jalowiec verfasserin aut NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype. erythrocytosis polycythemia NGS Genetics Kristina Vrotniakaite-Bajerciene verfasserin aut Annina Capraru verfasserin aut Tatiana Wojtovicova verfasserin aut Raphael Joncourt verfasserin aut Alicia Rovó verfasserin aut Naomi A. Porret verfasserin aut In Genes MDPI AG, 2010 12(2021), 12, p 1951 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:12, p 1951 https://doi.org/10.3390/genes12121951 kostenfrei https://doaj.org/article/354e7b797d43447bb7bb6a1f7b4f7de1 kostenfrei https://www.mdpi.com/2073-4425/12/12/1951 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 12, p 1951
language	English
source	In Genes 12(2021), 12, p 1951 volume:12 year:2021 number:12, p 1951
sourceStr	In Genes 12(2021), 12, p 1951 volume:12 year:2021 number:12, p 1951
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	erythrocytosis polycythemia NGS Genetics
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container_title	Genes
authorswithroles_txt_mv	Katarzyna Aleksandra Jalowiec @@aut@@ Kristina Vrotniakaite-Bajerciene @@aut@@ Annina Capraru @@aut@@ Tatiana Wojtovicova @@aut@@ Raphael Joncourt @@aut@@ Alicia Rovó @@aut@@ Naomi A. Porret @@aut@@
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callnumber-first	Q - Science
author	Katarzyna Aleksandra Jalowiec
spellingShingle	Katarzyna Aleksandra Jalowiec misc QH426-470 misc erythrocytosis misc polycythemia misc NGS misc Genetics NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients
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topic_title	QH426-470 NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients erythrocytosis polycythemia NGS
topic	misc QH426-470 misc erythrocytosis misc polycythemia misc NGS misc Genetics
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title	NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients
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title_full	NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients
author_sort	Katarzyna Aleksandra Jalowiec
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author_browse	Katarzyna Aleksandra Jalowiec Kristina Vrotniakaite-Bajerciene Annina Capraru Tatiana Wojtovicova Raphael Joncourt Alicia Rovó Naomi A. Porret
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title_auth	NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients
abstract	(1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype.
abstractGer	(1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype.
abstract_unstemmed	(1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype.
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title_short	NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients
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