Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.T135delFs
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GJB2

NM_004004.6:p.T135delFs

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.

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Adeyemo A et al.

European Journal of Human Genetics : Ejhg, 2022

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

33126609 (PubMed )
Supplement: life-10-00258-s001.pdf

Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.

Nishio SY et al.

Acta Oto-laryngologica, 2017

NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.

Chakchouk I et al.

The Journal of Molecular Diagnostics : Jmd, 2015

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.

Riahi Z et al.

International Journal of Pediatric Otorhinolaryngology, 2013

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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."