Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V193E
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GJB2

NM_004004.6:p.V193E

Associated Papers

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

The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees.

Lee SY et al.

Scientific Reports, 2020

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

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.

Kim SY et al.

Plos One, 2015

Natural Course of Residual Hearing with Reference to GJB2 and SLC26A4 Genotypes: Clinical Implications for Hearing Rehabilitation.

Lee SY et al.

Ear and Hearing, 0

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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."