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Q34324083-1B367FBF-2307-4F76-8BC8-C6427A2554B0
Q34324083-1B367FBF-2307-4F76-8BC8-C6427A2554B0
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Statement
http://www.wikidata.org/entity/statement/Q34324083-1B367FBF-2307-4F76-8BC8-C6427A2554B0
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
P2860
Q34324083-1B367FBF-2307-4F76-8BC8-C6427A2554B0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34324083-1B367FBF-2307-4F76-8BC8-C6427A2554B0
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wasDerivedFrom
12d61ec3b3108e34dd31791486b19ba03876ff55
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.