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  1. 1
    A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

    A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype by Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani

    Published 2017-12-01
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    Article
  2. 2
    Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

    Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing by Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella

    Published 2023-01-01
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