Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.L414insFs
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FOXP1

NM_001349338.3:p.L414insFs

Associated Papers

Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals.

Koene S et al.

Journal of Medical Genetics, 2024

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Mellone S et al.

Frontiers in Genetics, 2022

36035117 (PubMed )
Supplement: Table2.pdf

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

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

Parikh JR et al.

Hgg Advances, 2021

34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Prospective investigation of FOXP1 syndrome.

Siper PM et al.

Molecular Autism, 2017

29090079 (PubMed )
Supplement: 13229_2017_172_MOESM2_ESM.xlsx › Supplementary_Table_2
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