Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.N206T
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GJB2

NM_004004.6:p.N206T

Associated Papers

Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.

Namba K et al.

Bmc Research Notes, 2024

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

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

Del Castillo FJ et al.

Frontiers in Molecular Neuroscience, 2017

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.

Wattanasirichaigoon D et al.

Clinical Genetics, 2004

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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."