Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.C957Y
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NPC1

NM_000271.5:p.C957Y

Associated Papers

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.

Polese-Bonatto M et al.

Molecular Neurobiology, 2019

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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."