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
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Soldovieri MV et al.
Annals of Neurology, 2024
37964487 (PubMed )
Supplement: supplement_1.xlsx › Tabelle1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Döring JH et al.
International Journal of Molecular Sciences, 2021
33802230 (PubMed )
Supplement: ijms-22-02824-s001.zip › Supplement › Supplement_Table_S1__Variant_effect_prediction_scores.xlsx › Tabelle1
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