Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.P990R
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NPC1

NM_000271.5:p.P990R

Associated Papers

Novel Mutation in the Feline NPC2 Gene in Cats with Niemann-Pick Disease.

Rakib TM et al.

Animals : an Open Access Journal From Mdpi, 2023

Molecular basis for a new bovine model of Niemann-Pick type C disease.

Woolley SA et al.

Plos One, 2020

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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."