Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V43M
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GJB2

NM_004004.6:p.V43M

Associated Papers

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

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.

Vallian Broojeni J et al.

Plos One, 2023

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

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

Adadey SM et al.

Life (basel, Switzerland), 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_2

Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).

Mishra S et al.

Indian Journal of Pediatrics, 2018

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Del Castillo FJ et al.

Frontiers in Molecular Neuroscience, 2017

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.

Wingard JC et al.

Frontiers in Cellular Neuroscience, 2015

Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.

Varga L et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2014

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