Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.D1005V
Back to variants list

NPC1

NM_000271.5:p.D1005V

Associated Papers

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.

Chamova T et al.

European Neurology, 2016

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."