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Q48826206-9F32BB0C-B1BE-4FEC-92C8-09FC207E685C
Q48826206-9F32BB0C-B1BE-4FEC-92C8-09FC207E685C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48826206-9F32BB0C-B1BE-4FEC-92C8-09FC207E685C
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
P2860
Q48826206-9F32BB0C-B1BE-4FEC-92C8-09FC207E685C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48826206-9F32BB0C-B1BE-4FEC-92C8-09FC207E685C
rank
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Statement
wasDerivedFrom
546227e81600616fcf17de775b31888547a632ac
P2860
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion