Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.R620C
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USH1C

NM_153676.4:p.R620C

Associated Papers

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

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

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM et al.

Plos One, 2014

25133751 (PubMed )
Supplement: pone.0104281.s001.pdf

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O et al.

Plos One, 2012

23226338 (PubMed )
Supplement: pone.0050628.s003.pdf
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