Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.Q100fs
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FOXG1

NM_005249.5:p.Q100fs

Associated Papers

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

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

Cellini E et al.

Developmental Medicine and Child Neurology, 2016

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.

Fryssira H et al.

Molecular Cytogenetics, 2016

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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."