Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.Q86P
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FOXG1

NM_005249.5:p.Q86P

Associated Papers

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

Jeon S et al.

Nature Communications, 2025

40404610 (PubMed )
Supplement: 41467_2025_59838_MOESM8_ESM.pdf

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Ellaway CJ et al.

European Journal of Human Genetics : Ejhg, 2013

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