Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF9
Variant:p.I294T
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ARHGEF9

NM_015185.3:p.I294T

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

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."