Associated Papers
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM3_ESM.xlsx › SpliceAI
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
Portaro S et al.
Neuromolecular Medicine, 2015
Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease.
Bas T et al.
The Journal of Biological Chemistry, 2011
O-glycosylation of the cardiac I(Ks) complex.
Chandrasekhar KD et al.
The Journal of Physiology, 2011
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