Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.Q86fs
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FOXG1

NM_005249.5:p.Q86fs

Associated Papers

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

Jeon S et al.

Nature Communications, 2025

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

Jeon S et al.

Biorxiv : the Preprint Server for Biology, 2025

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Cavirani B et al.

International Journal of Molecular Sciences, 2024

38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."