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Q28285245-0C3AD985-5234-4141-BDEF-B2E59831A75D
Q28285245-0C3AD985-5234-4141-BDEF-B2E59831A75D
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http://www.wikidata.org/entity/statement/Q28285245-0C3AD985-5234-4141-BDEF-B2E59831A75D
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening
P2860
Q28285245-0C3AD985-5234-4141-BDEF-B2E59831A75D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28285245-0C3AD985-5234-4141-BDEF-B2E59831A75D
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wasDerivedFrom
5bbdaa4a118e494ac6ca7273b0430f6442a6a760
P2860
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation