Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.Q129_V130Splc
Back to variants list

USH1C

NM_153676.4:p.Q129_V130Splc

Associated Papers

[Molecular genetics of Usher syndrome].

Tazetdinov AM et al.

Genetika, 2008

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM et al.

American Journal of 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."