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
Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.
Sun WB et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
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