Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.P1122L
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KCNH2

NM_000238.4:p.P1122L

Associated Papers

Clinical application of whole-exome sequencing analysis in childhood epilepsy.

Gavaz M et al.

Journal of Neurogenetics, 2024

39654149 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_materials

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5
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