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Q42260164-00EBF37A-2D74-4D72-9C9B-0CFA36EF997E
Q42260164-00EBF37A-2D74-4D72-9C9B-0CFA36EF997E
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Statement
http://www.wikidata.org/entity/statement/Q42260164-00EBF37A-2D74-4D72-9C9B-0CFA36EF997E
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
P2860
Q42260164-00EBF37A-2D74-4D72-9C9B-0CFA36EF997E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42260164-00EBF37A-2D74-4D72-9C9B-0CFA36EF997E
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wasDerivedFrom
d4eb9a30122c72d04ef7bd56f94242b5a5544a5f
P2860
A subset of SR proteins activates splicing of the cardiac troponin T alternative exon by direct interactions with an exonic enhancer