Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.R872W
Back to variants list

EVC2

NM_147127.5:p.R872W

Associated Papers

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2025

40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Musculo-skeletal

Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness.

Sabiha B et al.

Pakistan Journal of Medical Sciences, 0

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."