Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.V971delFs
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NPC1

NM_000271.5:p.V971delFs

Associated Papers

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

Zarowski M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2011

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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."