Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.E20K
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NPC2

NM_006432.5:p.E20K

Associated Papers

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

Touma L et al.

Scientific Reports, 2021

Niemann-Pick C2 protein regulates sterol transport between plasma membrane and late endosomes in human fibroblasts.

Berzina Z et al.

Chemistry and Physics of Lipids, 2018

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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."