Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.V231G
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NPC1

NM_000271.5:p.V231G

Associated Papers

Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

Gong X et al.

Cell, 2016

27238017 (PubMed )
Supplement: mmc1.pdf

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.

Kaminski WE et al.

Journal of Inherited Metabolic Disease, 2002

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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