Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.N232S
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FOXG1

NM_005249.5:p.N232S

Associated Papers

Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce.

Coad B et al.

Bmc Medical Education, 2023

Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.

Brimble E et al.

Orphanet Journal of Rare Diseases, 2023

Multidimensional Functional Profiling of Human Neuropathogenic FOXG1 Alleles in Primary Cultures of Murine Pallial Precursors.

Frisari S et al.

International Journal of Molecular Sciences, 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

Delineation of the movement disorders associated with FOXG1 mutations.

Papandreou A et al.

Neurology, 2016

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

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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."