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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 17003072 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.