Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.G992E
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NPC1

NM_000271.5:p.G992E

Associated Papers

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

Millat G et al.

Molecular Genetics and Metabolism, 0

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."