Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.A78V
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GJB2

NM_004004.6:p.A78V

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.

Sakuma N et al.

Journal of Human Genetics, 2016

Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.

Qing J et al.

Genetic Testing and Molecular Biomarkers, 2015

[Mutation screening in taperin gene in Chinese with prelingual nonsyndromic hearing impairment].

Wang Q et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 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."