Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I30T
Back to variants list

GJB1

NM_000166.6:p.I30T

Associated Papers

Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.

Agrahari A et al.

Journal of Theoretical Biology, 2015

Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.

Baker SK et al.

Muscle & Nerve, 2008

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

Nicholson GA et al.

Neurology, 1998

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."