Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.K71R
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NPC2

NM_006432.5:p.K71R

Associated Papers

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

Touma L et al.

Scientific Reports, 2021

Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition.

Sorrentino F et al.

Journal of Alzheimer's Disease : Jad, 2021

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Wassif CA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

Zech M et al.

Plos One, 2013

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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."