Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders.
Lawrence ES, Gu W, Bohlender RJ, Anza-Ramirez C, Cole AM, Yu JJ, Hu H, Heinrich EC, O'Brien KA, Vasquez CA, Cowan QT, Bruck PT, Mercader K, Alotaibi M, Long T, Hall JE, Moya EA, Bauk MA, Reeves JJ, Kong MC, Salem RM, Vizcardo-Galindo G, Macarlupu JL, Figueroa-Mujíca R, Bermudez D, Corante N, Gaio E, Fox KP, Salomaa V, Havulinna AS, Murray AJ, Malhotra A, Powel FL, Jain M, Komor AC, Cavalleri GL, Huff CD, Villafuerte FC, Simonson TS.
Lawrence ES, et al. Among authors: mercader k.
Sci Adv. 2024 Feb 9;10(6):eadj5661. doi: 10.1126/sciadv.adj5661. Epub 2024 Feb 9.
Sci Adv. 2024.
PMID: 38335297
Free PMC article.