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Q41195022-70835951-7BCC-424D-9E89-CE730D62B081
Q41195022-70835951-7BCC-424D-9E89-CE730D62B081
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Statement
http://www.wikidata.org/entity/statement/Q41195022-70835951-7BCC-424D-9E89-CE730D62B081
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.
P2860
Q41195022-70835951-7BCC-424D-9E89-CE730D62B081
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41195022-70835951-7BCC-424D-9E89-CE730D62B081
rank
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type
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wasDerivedFrom
8dbd967ec4d841cabbbf9f221569e8e516ce7c65
P2860
Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli