Varaico: Literature-Extracted Genetic Variants

Gene:EIF3B
Variant:p.Y306*
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EIF3B

NM_001037283.2:p.Y306*

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

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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."