Varaico: Literature-Extracted Genetic Variants

Gene:SV2C
Variant:p.R48W
Back to variants list

SV2C

NM_014979.4:p.R48W

Associated Papers

Rare SV2C coding variants in Parkinson's disease risk.

Chang CH et al.

Journal of Parkinson's Disease, 2025

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS7_het
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."