Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.N253D
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FOXG1

NM_005249.5:p.N253D

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

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

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

De Filippis R et al.

Clinical Genetics, 2012

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

Kortüm F et al.

Journal of Medical Genetics, 2011

FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.

Byun CK et al.

Child Neurology Open, 0

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