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    Article

    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    De novo mutations in protein-coding genes are a well-established cause of developmental disorders1. However, genes known to be associated with developmental disorders account for only a minority of the observed e...

    Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang in Nature (2020)