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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.Q447fs

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NPC1

NM_000271.5:p.Q447fs

hg38:chr18:23554972 TTG>N

Associated Papers

Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.

Hopf S et al.

Plos One, 2021

34086834 (PubMed )

Supplement: pone.0252825.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."