Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.S323delFs
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FOXG1

NM_005249.5:p.S323delFs

Associated Papers

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Mastrangelo M et al.

Frontiers in Neurology, 2022

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

[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

FOXG1 is responsible for the congenital variant of Rett syndrome.

Ariani F et al.

American Journal of Human Genetics, 2008

[Molecular basis of Rett syndrome: A current look].

Pantaleón F G et al.

Revista Chilena De Pediatria, 0

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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."