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Q34142703-043F6DA8-D9E9-4625-BD52-61FEA9606227
Q34142703-043F6DA8-D9E9-4625-BD52-61FEA9606227
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34142703-043F6DA8-D9E9-4625-BD52-61FEA9606227
Rare etiology of autosomal recessive disease in a child with noncarrier parents.
P2860
Q34142703-043F6DA8-D9E9-4625-BD52-61FEA9606227
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34142703-043F6DA8-D9E9-4625-BD52-61FEA9606227
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wasDerivedFrom
800f80e816e2f89f1ab65ff7f2115a1649f9e25e
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.