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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDAP1

Variant:p.L209V

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GDAP1

NM_018972.4:p.L209V

hg38:chr8:74362984 C>G

Associated Papers

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.

Chung KW et al.

Journal of Human Genetics, 2008

18231710 (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."