Varaico: Literature-Extracted Genetic Variants

Gene:NFATC1
Variant:p.V745M
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NFATC1

NM_001278669.2:p.V745M

Associated Papers

Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.

Kostel Bal S et al.

Blood, 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."