Varaico: Literature-Extracted Genetic Variants

Gene:EIF3F
Variant:p.C256S
Back to variants list

EIF3F

NM_003754.3:p.C256S

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

41033306 (PubMed )
Supplement: mmc14.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."