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1
Q24533516-275FE824-C285-495A-97DF-87735130BEFD
Q24533516-275FE824-C285-495A-97DF-87735130BEFD
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Statement
http://www.wikidata.org/entity/statement/Q24533516-275FE824-C285-495A-97DF-87735130BEFD
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.
P2860
Q24533516-275FE824-C285-495A-97DF-87735130BEFD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24533516-275FE824-C285-495A-97DF-87735130BEFD
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wasDerivedFrom
e9e3446c96be3e8f6be741e685fde42cba150f6e
P2860
Defective activity of acyl-CoA:cholesterol O-acyltransferase in Niemann-Pick type C and type D fibroblasts.