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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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Detalles Bibliográficos
Autores principales:	Pan, Hong, Chen, Qiuhong, Qi, Shenggui, Li, Tengyan, Liu, Beihong, Liu, Shiming, Ma, Xu, Wang, Binbin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2018
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435565/ https://www.ncbi.nlm.nih.gov/pubmed/30487161 http://dx.doi.org/10.1042/BSR20181389

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