Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.G993fs
Back to variants list

NPC1

NM_000271.5:p.G993fs

Associated Papers

Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Baxter LL et al.

Scientific Reports, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."