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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDAP1

Variant:p.L205S

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GDAP1

NM_018972.4:p.L205S

hg38:chr8:74362973 T>C

Associated Papers

Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.

Xue H et al.

Journal of Genetics, 2021

34470922 (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."