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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.F1167V

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NPC1

NM_000271.5:p.F1167V

hg38:chr18:23534538 A>C

Associated Papers

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Mazzacuva F et al.

Febs Letters, 2016

27139891 (PubMed )

Supplement: FEB2-590-1651-s001.pdf

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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."