Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.Y217*
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FOXG1

NM_005249.5:p.Y217*

Associated Papers

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Mitani T et al.

American Journal of Human Genetics, 2021

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

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

27029630 (PubMed )
Supplement: supp_WNL.0000000000002585_Tables.pdf

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Trump N et al.

Journal of Medical Genetics, 2016

Epilepsy and outcome in FOXG1-related disorders.

Seltzer LE 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."