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Mutations in EPAS1 in congenital heart disease in Tibetans

EPAS1 encodes HIF2 and is closely related to high altitude chronic hypoxia. Mutations in the EPAS1 coding sequence are associated with several kinds of human diseases, including syndromic congenital heart disease (CHD). However, whether there are rare EPAS1 coding variants related to Tibetan non-syn...

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Detalhes bibliográficos
Publicado no:Biosci Rep
Main Authors: Pan, Hong, Chen, Qiuhong, Qi, Shenggui, Li, Tengyan, Liu, Beihong, Liu, Shiming, Ma, Xu, Wang, Binbin
Formato: Artigo
Idioma:Inglês
Publicado em: Portland Press Ltd. 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6435565/
https://ncbi.nlm.nih.gov/pubmed/30487161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20181389
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