Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.V845fs
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NPC1

NM_000271.5:p.V845fs

Associated Papers

Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.

Dweikat I et al.

Bmc Medical Genomics, 2021

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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."