Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Y151H
Back to variants list

GJB1

NM_000166.6:p.Y151H

Associated Papers

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Hong YB et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

Park HK et al.

Clinical Genetics, 2006

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."