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Q42953198-26781C7A-F5FC-405E-8922-FD39498A5763
Q42953198-26781C7A-F5FC-405E-8922-FD39498A5763
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42953198-26781C7A-F5FC-405E-8922-FD39498A5763
NPC1 late endosomes contain elevated levels of non-esterified ('free') fatty acids and an abnormally glycosylated form of the NPC2 protein.
P2860
Q42953198-26781C7A-F5FC-405E-8922-FD39498A5763
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42953198-26781C7A-F5FC-405E-8922-FD39498A5763
rank
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type
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Statement
wasDerivedFrom
7d36f25ce66fdecb9c3f00d816e032d60c2803de
P2860
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.