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Paper Details

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.
Mol Genet Metab Rep
4
2020
DNA variants, G-protein 5, G-protein 5 (GNB5) gene, GNB5, GNB5 variants, NM_016194, Tyr344Ter, boys, c.1032C > G, cardiac arrhythmia syndrome, cognitive and motor delay, cortical visual impairment, developmental delay, intellectual developmental disorder, intellectual disability, mental retardation, patients, sick sinus, sick sinus syndrome
Author NameAffiliation
Wayne W GrodyDepartments of Pediatrics and Mattel Children's Hospital at university of california los angeles
Wayne W GrodyDavid Geffen School of Medicine at university of california los angeles
Wayne W GrodyDavid Geffen School of Medicine at university of california los angeles
Stanley F NelsonDepartments of Pediatrics and Mattel Children's Hospital at university of california los angeles
Stanley F NelsonDavid Geffen School of Medicine at university of california los angeles
Stanley F NelsonDavid Geffen School of Medicine at university of california los angeles
Stanley F NelsonDepartments of Pediatrics and Mattel Children's Hospital at university of california los angeles
Stanley F NelsonDavid Geffen School of Medicine at university of california los angeles
Stanley F NelsonDavid Geffen School of Medicine at university of california los angeles
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Release 1.2