Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.E391G
Back to variants list

NPC1

NM_000271.5:p.E391G

Associated Papers

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

Seker Yilmaz B et al.

International Journal of Molecular Sciences, 2020

The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.

Takamura A et al.

Molecular Genetics and Metabolism, 2013

Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.

Kannan P et al.

Journal of Biomolecular Structure & Dynamics, 0

36264126 (PubMed )
Supplement: supplement_1.docx
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."