Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF9
Variant:p.R357I
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ARHGEF9

NM_015185.3:p.R357I

Associated Papers

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

Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.

Yao R et al.

Journal of Molecular Neuroscience : Mn, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."