Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.P86L
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NPC2

NM_006432.5:p.P86L

Associated Papers

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.

De Castro-Orós I et al.

Journal of Translational Medicine, 2017

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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."