Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.K130E
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USH1G

NM_173477.5:p.K130E

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

Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.

Haraksingh RR et al.

Bmc Genomics, 2014

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Aparisi MJ et al.

Orphanet Journal of Rare Diseases, 2014

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P et al.

Journal of Medical Genetics, 2012

22135276 (PubMed )
Supplement: jmedgenet-2011-100468-s5.pdf

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › a2780_f40r3

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.

Aller E et al.

Ophthalmic Genetics, 2007

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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."