Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.A267D
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NPC1

NM_000271.5:p.A267D

Associated Papers

Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C.

Parihar J et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022

Proteomic analysis of s-acylated proteins in human retinal pigment epithelial cells and the role of palmitoylation of Niemann-Pick type C1 protein in cholesterol transport.

Li JK et al.

Frontiers in Aging Neuroscience, 2022

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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."