Associated Papers
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani K et al.
European Journal of Human Genetics : Ejhg, 2023
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
Beyond diabetes mellitus: close pathological association of mutations of the KCNQ1 gene with other systemic disorders.
Kapoor S
Annals of the Academy of Medicine, Singapore, 2012
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.
Baek JS et al.
Journal of Korean Medical Science, 2010
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