Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.M195L
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GJB2

NM_004004.6:p.M195L

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.

Kim HR et al.

Human Genetics, 2016

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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."