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Q41770047-1276D626-2E6F-4DEB-85BC-6022B2F61692
Q41770047-1276D626-2E6F-4DEB-85BC-6022B2F61692
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http://www.wikidata.org/entity/statement/Q41770047-1276D626-2E6F-4DEB-85BC-6022B2F61692
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome
P2860
Q41770047-1276D626-2E6F-4DEB-85BC-6022B2F61692
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41770047-1276D626-2E6F-4DEB-85BC-6022B2F61692
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wasDerivedFrom
000052b0de7e6138b094e02061945cae119e1cad
P2860
A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.