Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.R636C
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USH1C

NM_153676.4:p.R636C

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

[Molecular genetics of Usher syndrome].

Tazetdinov AM et al.

Genetika, 2008

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM et al.

Human Genetics, 2002

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