Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V38A
Back to variants list

GJB1

NM_000166.6:p.V38A

Associated Papers

GJB1 Mutation-A Disease Spectrum: Report of Case Series.

Niu J et al.

Frontiers in Neurology, 2019

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK et al.

Biochimica Et Biophysica Acta, 2012

A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.

Karadima G et al.

Journal of Neurology, 2004

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."