Varaico: Literature-Extracted Genetic Variants

Gene:EPS8
Variant:p.T39delFs
Back to variants list

EPS8

NM_004447.6:p.T39delFs

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review.

Abbasi Z et al.

Human Genome Variation, 2023

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D et al.

Human Genetics, 2016

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."