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Q30317947-DDAE5CE4-2C69-4208-B32F-4D0012DF9EE2
Q30317947-DDAE5CE4-2C69-4208-B32F-4D0012DF9EE2
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Statement
http://www.wikidata.org/entity/statement/Q30317947-DDAE5CE4-2C69-4208-B32F-4D0012DF9EE2
Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.
P2860
Q30317947-DDAE5CE4-2C69-4208-B32F-4D0012DF9EE2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30317947-DDAE5CE4-2C69-4208-B32F-4D0012DF9EE2
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wasDerivedFrom
fde62814dc3801736d32f9af3d199a261e391aef
P2860
Characterization of compound missense mutation and deletion of carnitine palmitoyltransferase II in a patient with adenovirus-associated encephalopathy.