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Q51748265-401C145A-1473-4619-9013-1EF869F63402
Q51748265-401C145A-1473-4619-9013-1EF869F63402
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Statement
http://www.wikidata.org/entity/statement/Q51748265-401C145A-1473-4619-9013-1EF869F63402
Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
P2860
Q51748265-401C145A-1473-4619-9013-1EF869F63402
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51748265-401C145A-1473-4619-9013-1EF869F63402
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wasDerivedFrom
d1642ebbbba08bf44c071bcc39e8e617e0b2ff4d
P2860
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.