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Case report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose
ArticleAbstract: Introduction: Genomic screening is an informative and helpful tool for the clinical management of inPalabras claves:ancestral, Cardiovascular disease, Case report, Genetics, genomicAutores:Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Rodríguez A.A., P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Sánchez Insuasty T., Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusGenomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
ArticleAbstract: Introduction: Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide rangPalabras claves:Cardiovascular disease, genome, LMNA, NGS, Precision MedicineAutores:Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Castillo R., Ibarra-Rodríguez A.A., Laso-Bayas J.L., P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopus