Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.L316fs
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FOXG1

NM_005249.5:p.L316fs

Associated Papers

PLP1-Targeting Antisense Oligonucleotides Improve FOXG1 Syndrome Mice.

Tan DCS et al.

International Journal of Molecular Sciences, 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

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K et al.

Seizure, 2018

Delineation of the movement disorders associated with FOXG1 mutations.

Papandreou A et al.

Neurology, 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."