Associated Papers
Prevalence of Desmoplakin Variants in Patients With Recurrent Myocarditis.
Monda E et al.
The American Journal of Cardiology, 2026
Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death.
Azimi A et al.
Bmc Medical Genomics, 2023
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Mazzaccara C et al.
Biomolecules, 2022
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R et al.
Frontiers in Genetics, 2020
33110418 (PubMed )
Supplement: Data_Sheet_2.zip › SupplementaryTables_FrontiersInGenetics › Supplementary_Table_S1__Ultra-rare_variants_observed_for_231_CHD_samples_including_gnomAD_o_e_constraint_scores.XLSX › All_LoF_Variants
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
Baskin B et al.
Human Genetics, 2013
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