Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Scientific Reports
Torrado, Mario M; Maneiro, Emilia E; Lamounier Junior, Arsonval A; Fernández-Burriel, Miguel M; Sánchez Giralt, Sara S; Martínez-Carapeto, Ana A; Cazón, Laura L; Santiago, Elisa E; Ochoa, Juan Pablo JP; McKenna, William J WJ; Santomé, Luis L; Monserrat, Lorenzo L
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B