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  1. 1
    Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

    Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes by Alejandro Moles-Fernández, Joanna Domènech-Vivó, Anna Tenés, Judith Balmaña, Orland Diez, Sara Gutiérrez-Enríquez

    Published 2021-07-01
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  2. 2
    A Novel Intragenic Duplication in the <i>HDAC8</i> Gene Underlying a Case of Cornelia de Lange Syndrome

    A Novel Intragenic Duplication in the <i>HDAC8</i> Gene Underlying a Case of Cornelia de Lange Syndrome by Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, María Arnedo, Beatriz Puisac, Neus Castells, Alberto Plaja, Anna Tenes, Ivon Cuscó, Laura Trujillano, Feliciano J. Ramos, Eduardo F. Tizzano, Paulino Gómez-Puertas, Juan Pié

    Published 2022-08-01
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