Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.V282fs
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NPC1

NM_000271.5:p.V282fs

Associated Papers

Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.

Chikh K et al.

Molecular Genetics and Metabolism, 2004

Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.

Salvioli R et al.

The Journal of Biological Chemistry, 2004

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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."