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  1. Jul 2026
  2. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line (hiPSC) from a patient with DLG4-related synaptopathy (AOUMEYi004-A) and a novel heterozygous de novo nonsense DLG4 variant c.2155A > T p.(Arg719*)
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    sciencedirect.com/science/article/pii/S1873506126001558
  3. www.sciencedirect.com www.sciencedirect.com
    Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A)
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    sciencedirect.com/science/article/pii/S1873506126001546