Browsing Centre for Clinical Pharmacology by Author "Qu, D"
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Mendelian gene identification through mouse embryo viability screening
Cacheiro, P; Westerberg, CH; Mager, J; Dickinson, ME; Nutter, LMJ; Muñoz-Fuentes, V; Hsu, C-W; Van den Veyver, IB; Flenniken, AM; McKerlie, C -
Mendelian gene identification through mouse embryo viability screening.
Cacheiro, P; Westerberg, CH; Mager, J; Dickinson, ME; Nutter, LMJ; Muñoz-Fuentes, V; Hsu, C-W; Van den Veyver, IB; Flenniken, AM; McKerlie, C (2022-10-13)BACKGROUND: 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 associated ...