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Q44741396-08637E81-9836-4A20-9FCD-D1665B86638A
Q44741396-08637E81-9836-4A20-9FCD-D1665B86638A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44741396-08637E81-9836-4A20-9FCD-D1665B86638A
Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.
P2860
Q44741396-08637E81-9836-4A20-9FCD-D1665B86638A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44741396-08637E81-9836-4A20-9FCD-D1665B86638A
rank
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type
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Statement
wasDerivedFrom
40091f05a55960adb05e6026c54fe3b8e2aa8a51
P2860
E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.