Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.S386N
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EPAS1

NM_001430.5:p.S386N

Associated Papers

Elucidating loss-of-function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort.

Zhang J et al.

British Journal of Haematology, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."