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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FDFT1

Variant:p.L16P

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FDFT1

NM_004462.5:p.L16P

hg38:chr8:11802879 T>C

Associated Papers

Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22.

Zhou Y et al.

Glia, 2020

32511821 (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."