Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.I448_A449insFs
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NPC1

NM_000271.5:p.I448_A449insFs

Associated Papers

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

Park WD et al.

Human Mutation, 2003

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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."