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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.R1077P

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NPC1

NM_000271.5:p.R1077P

hg38:chr18:23536688 C>G

Associated Papers

Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C.

Parihar J et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022

34526163 (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."