Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.S72C
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GJB2

NM_004004.6:p.S72C

Associated Papers

First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants.

Toure M et al.

Annals of Human Genetics, 2025

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

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.

Burke WF et al.

Hearing Research, 2016

Connexin26 mutations associated with nonsyndromic hearing loss.

Park HJ et al.

The Laryngoscope, 2000

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Kenneson A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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