Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S69P
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GJA1

NM_000165.5:p.S69P

Associated Papers

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

Vermeer MCSC et al.

International Journal of Molecular Sciences, 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

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss.

Hong HM et al.

Human Genetics, 2010

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

Yang JJ et al.

Audiology & Neuro-otology, 2007

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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."