Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V198M
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GJB2

NM_004004.6:p.V198M

Associated Papers

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.

Posukh OL et al.

Biomolecules, 2023

Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.

Tsai CY et al.

Computational and Structural Biotechnology Journal, 2023

38074473 (PubMed )
Supplement: mmc1.docx

[Analysis of the deafness gene screening results from newborns in Shijiazhuang].

Feng J et al.

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

Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China.

Li SX et al.

Clinical and Experimental Otorhinolaryngology, 2015

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL et al.

Human Mutation, 2014

Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.

Yao GD et al.

Experimental and Therapeutic Medicine, 2014

Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.

Ambrosi C et al.

Plos One, 2013

Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.

Hashemi SB et al.

Molecular Biology Reports, 2012

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

Yuan Y et al.

Journal of Translational Medicine, 2009

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Dai P et al.

Journal of Translational Medicine, 2009

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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."