Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.P3969P
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USH2A

NM_206933.4:p.P3969P

Associated Papers

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Garcia-Garcia G et al.

Orphanet Journal of Rare Diseases, 2011

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

McGee TL et al.

Journal of Medical Genetics, 2010

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Dreyer B et al.

Human Mutation, 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."