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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJA1

Variant:p.A40G

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GJA1

NM_000165.5:p.A40G

hg38:chr6:121446966 C>G

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

27228968 (PubMed )

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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."