Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation.
Jones EG et al.
Journal of Visualized Experiments : Jove, 2019
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
Sepp R et al.
American Journal of Medical Genetics. Part A, 2017
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