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Q41949686-620BDE4A-A19F-4A12-985F-769A37B58BC4
Q41949686-620BDE4A-A19F-4A12-985F-769A37B58BC4
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Statement
http://www.wikidata.org/entity/statement/Q41949686-620BDE4A-A19F-4A12-985F-769A37B58BC4
Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.
P2860
Q41949686-620BDE4A-A19F-4A12-985F-769A37B58BC4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41949686-620BDE4A-A19F-4A12-985F-769A37B58BC4
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wasDerivedFrom
e9157c09dbd12094ea7417ca2d753d12f4bc85ea
P2860
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.