Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.W381*
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NPC1

NM_000271.5:p.W381*

Associated Papers

[Clinical features and gene mutation analysis of patients with Niemann-Pick disease type C].

Ren SC et al.

Zhonghua Yi Xue Za Zhi, 2018

[Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C].

Zhan X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016

The natural history of Niemann-Pick disease type C in the UK.

Imrie J et al.

Journal of Inherited Metabolic Disease, 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."