Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain.
Robles-Mezcua A et al.
Genes, 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Koh HY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.
Munroe PB et al.
Circulation. Genomic and Precision Medicine, 2018
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Select a paper to view details