Associated Papers
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
Yang H et al.
Molecular Genetics & Genomic Medicine, 2022
Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit.
Hines DJ et al.
Molecular Psychiatry, 2022
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
Scala M et al.
Neurogenetics, 2021
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