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Q36571707-881EEB2C-911A-47ED-A508-1DD1236A57EF
Q36571707-881EEB2C-911A-47ED-A508-1DD1236A57EF
BestRank
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http://www.wikidata.org/entity/statement/Q36571707-881EEB2C-911A-47ED-A508-1DD1236A57EF
A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient.
P2860
Q36571707-881EEB2C-911A-47ED-A508-1DD1236A57EF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36571707-881EEB2C-911A-47ED-A508-1DD1236A57EF
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wasDerivedFrom
dfa6a66e2d6cf8bea8b9b8b01dff4132441cece6
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.