Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.V125M
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PCDH15

NM_001384140.1:p.V125M

Associated Papers

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Yan D et al.

Journal of Human Genetics, 2009

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

Auslender N et al.

Genetic Testing, 2008

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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."