Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.K170fs
Back to variants list

FOXG1

NM_005249.5:p.K170fs

Associated Papers

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

Jeon S et al.

Biorxiv : the Preprint Server for Biology, 2025

The patient-specific mouse model with Foxg1 frameshift mutation uncovers the pathophysiology of FOXG1 syndrome.

Park J et al.

Research Square, 2023

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

Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.

Jang HN et al.

Medicine, 2021

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

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."