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  1. 1
    Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay

    Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

    Published 2025-04-01
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  2. 2
    A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures

    A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures by Alison M. Muir, Adi Reich, Fanggeng Zou, Deanna Alexis Carere, Sue Moyer Harasink, Lily Tran, Bobbi McGivern

    Published 2025-04-01
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