Associated Papers
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D et al.
Science (new York, N.y.), 2022
35926050 (PubMed )
Supplement: NIHMS1835045-supplement-Supp__table_1.xlsx › disease_samples
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.
Hylind RJ et al.
Circulation. Genomic and Precision Medicine, 2022
Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking.
Kant S et al.
Cardiovascular Research, 2016
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
Klauke B et al.
Human Molecular Genetics, 2010
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