Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.
Caroselli S et al.
Annals of Laboratory Medicine, 2025
39355877 (PubMed )
Supplement: alm-45-1-96-supple.pdf
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Torrado M et al.
Scientific Reports, 2022
Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes.
Millat G et al.
Dna and Cell Biology, 2015
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