Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR1
Variant:p.Q77*
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GRXCR1

NM_001080476.3:p.Q77*

Associated Papers

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.

Mori K et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Schraders M et al.

American Journal of Human Genetics, 2010

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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."