Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.L414delFs
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FOXP1

NM_001349338.3:p.L414delFs

Associated Papers

Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.

Park C et al.

Esmo Open, 2025

39778225 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_1

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Peduto C et al.

American Journal of Medical Genetics. Part A, 2024

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.

Hudac CM et al.

Journal of Autism and Developmental Disorders, 2024

37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2

Prospective investigation of FOXP1 syndrome.

Siper PM et al.

Molecular Autism, 2017

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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."