Varaico: Literature-Extracted Genetic Variants

Gene:EPS15L1
Variant:p.T482M
Back to variants list

EPS15L1

NM_001258374.3:p.T482M

Associated Papers

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.

Deniz E et al.

Developmental Biology, 2023

37172641 (PubMed )
Supplement: NIHMS1904232-supplement-MMC1.xlsx › Sheet1
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."