Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.F286insFs
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FOXG1

NM_005249.5:p.F286insFs

Associated Papers

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

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

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

Zhang Q et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30405208 (PubMed )
Supplement: 41436_2018_348_MOESM3_ESM.xlsx › Sheet1

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

Zhang Q et al.

Bmc Medical Genetics, 2017

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Imbard A et al.

Molecular Genetics and Metabolism, 2011

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."