Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.A171insFs
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GJB2

NM_004004.6:p.A171insFs

Associated Papers

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Li M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.

Li W et al.

Human Genetics, 2018

GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China.

Ma Y et al.

Acta Oto-laryngologica, 2016

Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.

Jiang Y et al.

Plos One, 2015

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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."