Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure

Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure Научная публикация

Журнал

Physiological Reports
ISSN: 2051-817X

Вых. Данные

Год: 2024, Том: 12, Номер: 8, DOI: 10.14814/phy2.16015

Авторы

Maksiutenko Evgeniia M. ¹ , Merkureva Valeriia ^2,1 , Barbitoff Yury A. ^3,1 , Tsay Victoria V. ^2,4,1 , Aseev Mikhail V. ^2,1 , Glotov Andrey S. ^3,1 , Glotov Oleg S. ^4,1

Организации

1	Department of Genomic Medicine D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology St. Petersburg Russia
2	CerbaLab Ltd. St. Petersburg Russia
3	Department of Genetics and Biotechnology St. Petersburg State University St. Petersburg Russia
4	Department of Experimental Medical Virology Molecular Genetics and Biobanking of Pediatric Research and Clinical Center for Infectious Diseases St. Petersburg Russia

Maksiutenko E.M. , Merkureva V. , Barbitoff Y.A. , Tsay V.V. , Aseev M.V. , Glotov A.S. , Glotov O.S.
Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure
Physiological Reports. 2024. V.12. N8. DOI: 10.14814/phy2.16015 WOS Scopus OpenAlex

Web of science:	WOS:001206613600001
Scopus:	2-s2.0-85191085599
OpenAlex:	W4395082811

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