Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.R731W
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USH1C

NM_153676.4:p.R731W

Associated Papers

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Bahena P et al.

Human Genetics, 2022

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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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."