Associated Papers
Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women.
Bu R et al.
International Journal of Molecular Sciences, 2026
41751868 (PubMed )
Supplement: ijms-27-01732-s001.zip › ijms-4074002-supplementary-updated.pdf
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2026
41443252 (PubMed )
Supplement: euaf327_supplementary_data.zip › Table-S1-V2.xlsx › All_missense_variants
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
36860515 (PubMed )
Supplement: Table1.XLSX › missense_variants
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
25417810 (PubMed )
Supplement: NIHMS634670-supplement-1.pdf
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C et al.
Jama, 2005
Molecular mechanism of terbinafine resistance in Saccharomyces cerevisiae.
Leber R et al.
Antimicrobial Agents and Chemotherapy, 2003
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