Varaico: Literature-Extracted Genetic Variants

Gene:PIP4K2A
Variant:p.S316R
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PIP4K2A

NM_005028.5:p.S316R

Associated Papers

A novel gain-of-function PIP4K2A mutation elevates the expression of β-globin and aggravates the severity of α-thalassemia.

Zhang Y et al.

British Journal of Haematology, 2023

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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."