Varaico: Literature-Extracted Genetic Variants

Gene:EIF3A
Variant:p.Y382C
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EIF3A

NM_003750.4:p.Y382C

Associated Papers

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Erkut E et al.

American Journal of Human Genetics, 2025

An eIF3a gene mutation dysregulates myocardium growth with left ventricular noncompaction via the p-ERK1/2 pathway.

Ge M et al.

Genes & Diseases, 2021

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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."