Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.F142del1
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GJB2

NM_004004.6:p.F142del1

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.

Hearing Impairment Overview in Africa: the Case of Cameroon.

Wonkam Tingang E et al.

Genes, 2020

Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana.

Adadey SM et al.

Genes, 2020

Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.

Gibriel AA et al.

Molecular Biology Reports, 2019

Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.

Hellström S

Acta Oto-laryngologica, 2018

The genetic basis of deafness in populations of African descent.

Rudman JR et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017

Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.

Bosch J et al.

Omics : a Journal of Integrative Biology, 2014

Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.

Du W et al.

Acta Oto-laryngologica, 2014

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.

Yuan Y et al.

Journal of Translational Medicine, 2010

[Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation].

Yuan YY et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2010

Mutation analysis of the GJB2 (connexin 26) gene in Egypt.

Snoeckx RL et al.

Human Mutation, 2005

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