Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V38A
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GJB2

NM_004004.6:p.V38A

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

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

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

Adadey SM et al.

Life (basel, Switzerland), 2020

33126609 (PubMed )
Supplement: life-10-00258-s001.pdf

Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family.

Lan X et al.

Medicine, 2019

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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."