Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.N452fs
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NPC1

NM_000271.5:p.N452fs

Associated Papers

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Nadjar Y et al.

Orphanet Journal of Rare Diseases, 2018

30285904 (PubMed )
Supplement: 13023_2018_913_MOESM1_ESM.docx

The adult form of Niemann-Pick disease type C.

Sévin M et al.

Brain : a Journal of Neurology, 2007

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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."