Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.Y403*
Back to variants list

PCDH15

NM_001384140.1:p.Y403*

Associated Papers

Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.

Becirovic E et al.

Human Mutation, 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."