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Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report by Patricia Guevara-Ramírez, Santiago Cadena-Ullauri, Rita Ibarra-Castillo, José Luis Laso-Bayas, Elius Paz-Cruz, Rafael Tamayo-Trujillo, Viviana A. Ruiz-Pozo, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ana Karina Zambrano
Published 2023-03-01
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Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report by Ana Karina Zambrano, Elius Paz-Cruz, Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A. Ruiz-Pozo, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ricardo Hidalgo
Published 2023-05-01
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