Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.P90R
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NPC2

NM_006432.5:p.P90R

Associated Papers

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.

Tao C et al.

Bmc Infectious Diseases, 2024

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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."