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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LITAF

Variant:p.W116C

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LITAF

NM_001136472.2:p.W116C

hg38:chr16:11553562 C>G

Associated Papers

Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report.

Turčanová Koprušáková M et al.

Bmc Neurology, 2021

34311727 (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."