Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.E391K
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NPC1

NM_000271.5:p.E391K

Associated Papers

Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain.

Dubey V et al.

Plos Computational Biology, 2020

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Reunert J et al.

Ebiomedicine, 2016

Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.

Herbst SM et al.

Molecular and Cellular Probes, 2015

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
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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."