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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB1

Variant:p.A147D

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GJB1

NM_000166.6:p.A147D

hg38:chrX:71224147 C>A

Associated Papers

A network of chaperones prevents and detects failures in membrane protein lipid bilayer integration.

Coelho JPL et al.

Nature Communications, 2019

30737405 (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."