Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.C93R
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NPC2

NM_006432.5:p.C93R

Associated Papers

Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.

Chikh K et al.

Human Mutation, 2005

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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."