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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.E218K

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NPC1

NM_000271.5:p.E218K

hg38:chr18:23560460 C>T

Associated Papers

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.

Onodera S et al.

Plos One, 2017

28915250 (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."