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Q24633991-3620BB98-EB42-4673-BAB9-6A475D8F5053
Q24633991-3620BB98-EB42-4673-BAB9-6A475D8F5053
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Statement
http://www.wikidata.org/entity/statement/Q24633991-3620BB98-EB42-4673-BAB9-6A475D8F5053
Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene dis
P2860
Q24633991-3620BB98-EB42-4673-BAB9-6A475D8F5053
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24633991-3620BB98-EB42-4673-BAB9-6A475D8F5053
rank
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type
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wasDerivedFrom
4104756c4d9a116936c2557f3880f0634948ff28
P2860
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.