Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.R63W
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USH1C

NM_153676.4:p.R63W

Associated Papers

Phylogenetic analysis of Harmonin homology domains.

Colcombet-Cazenave B et al.

Bmc Bioinformatics, 2021

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

Dad S et al.

Molecular Genetics & Genomic Medicine, 2016

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Ganapathy A et al.

Plos One, 2014

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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."