Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.A40S
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GJB2

NM_004004.6:p.A40S

Associated Papers

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

Posukh OL et al.

Biomolecules, 2023

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

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

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

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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."