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  1. 1
    Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy

    Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy by Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman

    Published 2021-06-01
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    Article
  2. 2
    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease by Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters

    Published 2024-01-01
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    Article

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