Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.P2624P
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USH2A

NM_206933.4:p.P2624P

Associated Papers

Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Wafa TT et al.

Clinical Genetics, 2021

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Dad S et al.

Molecular Genetics & Genomic Medicine, 2016

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schultz JM et al.

Journal of Medical Genetics, 2011

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

Le Guédard-Méreuze S et al.

Human Mutation, 2010

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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."