Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.Y416*
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FOXG1

NM_005249.5:p.Y416*

Associated Papers

Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.

Lin TY et al.

Molecular Psychiatry, 2025

Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.

Xu J et al.

Bmc Pediatrics, 2024

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

Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.

Das DK et al.

Gene, 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

FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.

Takahashi S et al.

Clinical Genetics, 2012

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

De Filippis R et al.

Clinical Genetics, 2012

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

[FOXG1, a new gene responsible for the congenital form of Rett syndrome].

Roche-Martinez A et al.

Revista De Neurologia, 2011

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Le Guen T et al.

Neurogenetics, 2011

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Bahi-Buisson N et al.

Neurogenetics, 2010

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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."