Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.F115C
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GJB2

NM_004004.6:p.F115C

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

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 2020

Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.

Huang S et al.

Biomed Research International, 2020

32090102 (PubMed )
Supplement: 6370386.f1.xlsx › Supplemental_table_4

[The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing].

Cui Qingjia et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2015

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.

Chen T et al.

Annals of Human Genetics, 2014

[Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants].

Li JZ et al.

Yi Chuan = Hereditas, 2009

[GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan].

Wang S et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2009

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.

Wattanasirichaigoon D et al.

Clinical Genetics, 2004

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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."