Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.Q80K
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GJB2

NM_004004.6:p.Q80K

Associated Papers

Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes.

Akhbari E et al.

International Journal of Pediatric Otorhinolaryngology, 2025

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Fehrmann MLA et al.

Journal of the Association for Research in Otolaryngology : Jaro, 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

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Abbaspour Rodbaneh E et al.

Journal of Clinical Laboratory Analysis, 2021

A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family.

Jiang H et al.

Bioscience Trends, 2018

Research of genetic bases of hereditary non-syndromic hearing loss.

Subaşıoğlu A et al.

Turk Pediatri Arsivi, 2017

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

Kalay E et al.

Hearing Research, 2005

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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."