Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.C227W
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NPC1

NM_000271.5:p.C227W

Associated Papers

Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Baxter LL et al.

Scientific Reports, 2022

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

Wang C et al.

Nature Communications, 2019

31699992 (PubMed )
Supplement: 41467_2019_12969_MOESM1_ESM.pdf
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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."