Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.N187D
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FOXG1

NM_005249.5:p.N187D

Associated Papers

Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein.

Kharrat M et al.

Journal of Molecular Neuroscience : Mn, 2022

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH et al.

Clinical Genetics, 2020

32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2

FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.

Wong LC et al.

International Journal of Molecular Sciences, 2019

31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N et al.

Neurology. Genetics, 2018

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.

Terrone G et al.

Epilepsia, 2014

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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."