Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.A193T
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FOXG1

NM_005249.5:p.A193T

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.

Heng JI et al.

Journal of Neurochemistry, 2022

Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.

Jang HN et al.

Medicine, 2021

In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment.

Fahmi M et al.

International Journal of Molecular Sciences, 2019

31717404 (PubMed )
Supplement: ijms-20-05593-s001.zip › supplementary_table.xlsx › Table_S4

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

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Han L et al.

Molecular Genetics & Genomic Medicine, 2019

31199603 (PubMed )
Supplement: MGG3-7-e00789-s001.xlsx › Table_S1

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

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

Ma M et al.

The Journal of Pediatrics, 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Papandreou A et al.

Neurology, 2016

Epilepsy and outcome in FOXG1-related disorders.

Seltzer LE et al.

Epilepsia, 2014

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Goubau C et al.

European Journal of Human Genetics : Ejhg, 2013

Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.

Van der Aa N et al.

Molecular Syndromology, 2011

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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."