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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.L1045insFs

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NPC1

NM_000271.5:p.L1045insFs

hg38:chr18:23536784 A>AC

Associated Papers

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

Cologna SM et al.

Journal of Inherited Metabolic Disease, 2014

23653225 (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."