Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.S393W
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FOXG1

NM_005249.5:p.S393W

Associated Papers

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Mazel B et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024

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

Brimble E et al.

Orphanet Journal of Rare Diseases, 2023

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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."