Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.W133fs
Back to variants list

GJB1

NM_000166.6:p.W133fs

Associated Papers

A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.

Sakaguchi H et al.

Journal of Neurology, 2011

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."