Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.V423delFs
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FOXP1

NM_001349338.3:p.V423delFs

Associated Papers

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

Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.

Trelles MP et al.

Molecular Autism, 2021

34588003 (PubMed )
Supplement: 13229_2021_469_MOESM1_ESM.pdf

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I et al.

Journal of Medical Genetics, 2017

Prospective investigation of FOXP1 syndrome.

Siper PM et al.

Molecular Autism, 2017

Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology.

Sener EF et al.

Psychiatry Investigation, 2016

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Sollis E et al.

Human Molecular Genetics, 2016

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

Lozano R et al.

European Journal of Human Genetics : Ejhg, 2015

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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."