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  1. 1
    Broken silence: 22,841 predicted deleterious synonymous variants identified in the human exome through computational analysis

    Broken silence: 22,841 predicted deleterious synonymous variants identified in the human exome through computational analysis by Ana Carolina Mello, Delva Leao, Luis Dias, Felipe Colombelli, Mariana Recamonde-Mendoza, Andreia Carina Turchetto-Zolet, Ursula Matte

    Published 2024-01-01
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  2. 2
    Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

    Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart by Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal

    Published 2019-04-01
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