Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.F1002L
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NPC1

NM_000271.5:p.F1002L

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

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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."