Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.D502E
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NPC1

NM_000271.5:p.D502E

Associated Papers

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Chiorean A et al.

Scientific Reports, 2020

33139814 (PubMed )
Supplement: 41598_2020_75919_MOESM2_ESM.xlsx › LOF_and_nonsynonymous_mutations

Single-Nucleotide Polymorphisms in Human NPC1 Influence Filovirus Entry Into Cells.

Kondoh T et al.

The Journal of Infectious Diseases, 2018

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

Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer.

Kim SY et al.

Oncotarget, 2015

25831047 (PubMed )
Supplement: oncotarget-06-7597-s002.xlsx › Table_S1
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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."