Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF9
Variant:p.Q289*
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ARHGEF9

NM_001353921.2:p.Q289*

Associated Papers

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf

A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.

Coovadia A et al.

Plos One, 2023

38032981 (PubMed )
Supplement: pone.0295010.s001.doc

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

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R et al.

Epilepsia Open, 2019

31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2
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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."