Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.Y65F
Back to variants list

GJB3

NM_024009.3:p.Y65F

Associated Papers

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Chen L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Aliazami F et al.

Iranian Journal of Public Health, 2020

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

Adadey SM et al.

Life (basel, Switzerland), 2020

Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.

Wu D et al.

Molecular Genetics & Genomic Medicine, 2020

32048449 (PubMed )
Supplement: MGG3-8-e1177-s002.pdf

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

Chen K et al.

Journal of Clinical Laboratory Analysis, 2018

Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

Kim SY et al.

Medicine, 2016

Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.

Nishio SY et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.

Sheffield BS et al.

Plos One, 2015

25798586 (PubMed )
Supplement: pone.0119689.s004.xlsx › Pericolic_SNVs_and_indels

Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.

Li TC et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014

Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

Yao G et al.

Acta Oto-laryngologica, 2013

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

[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

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Yuan Y et al.

Journal of Translational Medicine, 2009

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.

Liu XZ et al.

Human Genetics, 2009

[Study of the relation between Cx31 gene and hereditary hearing impairment].

Gao WH et al.

Zhonghua Er Bi Yan Hou Ke Za Zhi, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."