Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.V130I
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USH1C

NM_153676.4:p.V130I

Associated Papers

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Adeyemo A et al.

European Journal of Human Genetics : Ejhg, 2022

34837038 (PubMed )
Supplement: 41431_2021_984_MOESM3_ESM.xlsx › Variants_detected

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.

Rim JH et al.

Scientific Reports, 2019

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

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.

Yan J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

Blaydon DC et al.

Clinical Genetics, 2003

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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."