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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB1

Variant:p.I71F

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GJB1

NM_000166.6:p.I71F

hg38:chrX:71223918 A>T

Associated Papers

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

Lin KP et al.

Plos One, 2011

22206013 (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."