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Q35452383-DF8E2D05-1A65-4E0F-830D-0BD94B6C8365
Q35452383-DF8E2D05-1A65-4E0F-830D-0BD94B6C8365
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35452383-DF8E2D05-1A65-4E0F-830D-0BD94B6C8365
Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.
P2860
Q35452383-DF8E2D05-1A65-4E0F-830D-0BD94B6C8365
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35452383-DF8E2D05-1A65-4E0F-830D-0BD94B6C8365
rank
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type
BestRank
Statement
wasDerivedFrom
9110007759400f9aa8137b11d6bb414ccb0d4539
P2860
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid