Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C53R
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GJB2

NM_004004.6:p.C53R

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

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

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Del Castillo FJ et al.

Frontiers in Molecular Neuroscience, 2017

Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness.

Dahl HH et al.

The Medical Journal of Australia, 2001

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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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."