Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR2
Variant:p.N238insFs
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GRXCR2

NM_001080516.2:p.N238insFs

Associated Papers

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.

Wonkam A et al.

Molecular Genetics & Genomic Medicine, 2021

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

D'Aguillo C et al.

International Journal of Audiology, 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

Genetic causes of moderate to severe hearing loss point to modifiers.

Naz S et al.

Clinical Genetics, 2017

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.

Imtiaz A et al.

Human Mutation, 2014

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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."