Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.Y509C
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NPC1

NM_000271.5:p.Y509C

Associated Papers

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Héron B et al.

Orphanet Journal of Rare Diseases, 2012

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."