Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.R404G
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NPC1

NM_000271.5:p.R404G

Associated Papers

Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Wang C et al.

Human Molecular Genetics, 2020

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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."