Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.S863P
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NPC1

NM_000271.5:p.S863P

Associated Papers

High-content imaging and structure-based predictions reveal functional differences between Niemann-Pick C1 variants.

Vanharanta L et al.

Traffic (copenhagen, Denmark), 2020

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

Wang C et al.

Human Molecular Genetics, 2020

Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Wang C et al.

Nature Communications, 2019

Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.

Pipalia NH et al.

Journal of Lipid Research, 2017

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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."