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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.I858fs

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NPC1

NM_000271.5:p.I858fs

hg38:chr18:23540478 A>AN

Associated Papers

Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.

Touma L et al.

Scientific Reports, 2021

33990640 (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."