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  1. Article

    Open Access

    Mendelian gene identification through mouse embryo viability screening

    The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associa...

    Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson in Genome Medicine (2022)