Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.L325fs
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FOXG1

NM_005249.5:p.L325fs

Associated Papers

Genetic Testing for Global Developmental Delay in Early Childhood.

Zhang J et al.

Jama Network Open, 2024

38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2

Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies.

Lu G et al.

Frontiers in Molecular Neuroscience, 2022

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L et al.

Orphanet Journal of Rare Diseases, 2020

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

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

Pringsheim M et al.

Annals of Clinical and Translational Neurology, 2019

Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.

Zhang Q et al.

Bmc Medical Genetics, 2017

A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.

Niu Y et al.

Annals of Saudi Medicine, 0

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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."