Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF9
Variant:p.Q290*
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ARHGEF9

NM_001353921.2:p.Q290*

Associated Papers

Autism-associated ARHGEF9 variants impair GABAergic synapses and ultrasonic communication by reducing gephyrin phosphorylation.

Jung H et al.

Molecular Psychiatry, 2026

41174051 (PubMed )
Supplement: 41380_2025_3313_MOESM2_ESM.xlsx › clinics

A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report.

Qiu T et al.

The Journal of International Medical Research, 2021

ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.

Wang JY et al.

Neurogenetics, 2018

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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."