Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.R63Q
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USH1C

NM_153676.4:p.R63Q

Associated Papers

Phylogenetic analysis of Harmonin homology domains.

Colcombet-Cazenave B et al.

Bmc Bioinformatics, 2021

33853521 (PubMed )
Supplement: 12859_2021_4116_MOESM1_ESM.pdf

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

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
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