Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R230L
Back to variants list

GJB1

NM_000166.6:p.R230L

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Yum SW et al.

Neurobiology of Disease, 2002

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."