Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.E406G
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NPC1

NM_000271.5:p.E406G

Associated Papers

Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Erwood S et al.

Genome Research, 2019

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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."