Associated Papers
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
Yang H et al.
Molecular Genetics & Genomic Medicine, 2022
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
Ghesh L et al.
Human Mutation, 2021
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
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
Alber M et al.
Neurology. Genetics, 2017
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