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 Full article

Journal

Physiological Reports
ISSN: 2051-817X

Output data

Year: 2024, Volume: 12, Number: 8, DOI: 10.14814/phy2.16015

Authors

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

Affiliations

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 OpenAlex

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