Associated Papers
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome.
Crotti L et al.
Heart Rhythm, 2009
Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.
Tsuji K et al.
Journal of Molecular and Cellular Cardiology, 2007
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.
Murray A et al.
Circulation, 1999
Genotype and clinical characteristics of congenital long QT syndrome in Thailand.
Saprungruang A et al.
Indian Pacing and Electrophysiology Journal, 0
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