Varaico: Literature-Extracted Genetic Variants

Gene:HSPG2
Variant:p.T3876T
Back to variants list

HSPG2

NM_005529.7:p.T3876T

Associated Papers

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Guissart C et al.

Human Molecular Genetics, 2015

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."