Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.P173H
Back to variants list

GJB2

NM_004004.6:p.P173H

Associated Papers

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Thönnissen E et al.

Human Genetics, 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."