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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB1

Variant:p.S138C

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GJB1

NM_000166.6:p.S138C

hg38:chrX:71224119 A>T

Associated Papers

Identification of amino acid residues lining the pore of a gap junction channel.

Skerrett IM et al.

The Journal of Cell Biology, 2002

12403817 (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."