Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.N227K
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FOXG1

NM_005249.5:p.N227K

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

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

King J et al.

Biorxiv : the Preprint Server for Biology, 2025

40488133 (PubMed )
Supplement: media-2.xlsx › ClinVar

Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.

Pepe G et al.

Genes, 2024

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 Disorders: From Clinical Description to Molecular Genetics.

Florian C et al.

Molecular Syndromology, 2012

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

Van der Aa N et al.

Molecular Syndromology, 2011

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, a new gene responsible for the congenital form of Rett syndrome].

Roche-Martinez A et al.

Revista De Neurologia, 2011

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Mencarelli MA et al.

Journal of Medical Genetics, 2010

A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.

Niu Y et al.

Annals of Saudi Medicine, 0

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