Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.R230C
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FOXG1

NM_005249.5:p.R230C

Associated Papers

Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder.

Bajaj S et al.

Journal of Human Genetics, 2025

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.

Shin S et al.

Pediatric Neurology, 2023

AAV-mediated FOXG1 gene editing in human Rett primary cells.

Croci S et al.

European Journal of Human Genetics : Ejhg, 2020

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.

Pringsheim M et al.

Annals of Clinical and Translational Neurology, 2019

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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."