Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.R525*
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FOXP1

NM_001349338.3:p.R525*

Associated Papers

Identification of novel FOXP1 variants in four unrelated patients with intellectual disability and speech impairment.

Xiang J et al.

Frontiers in Neurology, 2026

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing.

Zhuang J et al.

European Journal of Medical Research, 2025

Autism-like features and FOXP1 syndrome: A scoping review.

Stewart J et al.

Brain & Development, 2025

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.

Lu G et al.

Frontiers in Genetics, 2022

35432459 (PubMed )
Supplement: Table1.xlsx › Sheet1

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene.

Chen M et al.

Frontiers in Genetics, 2022

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Vilela J et al.

Frontiers in Molecular Neuroscience, 2022

36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.pdf

Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report.

Lin SZ et al.

World Journal of Clinical Cases, 2021

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Lozano R et al.

Journal of Neurodevelopmental Disorders, 2021

Linking Autism Risk Genes to Disruption of Cortical Development.

Garcia-Forn M et al.

Cells, 2020

An Autism-Related, Nonsense Foxp1 Mutant Induces Autophagy and Delays Radial Migration of the Cortical Neurons.

Li X et al.

Cerebral Cortex (new York, N.y. : 1991), 2019

Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.

Johnson TB et al.

Scientific Reports, 2018

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.

Zombor M et al.

Journal of Human Genetics, 2018

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

Urreizti R et al.

Scientific Reports, 2018

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I et al.

Journal of Medical Genetics, 2017

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

Trujillano D et al.

European Journal of Human Genetics : Ejhg, 2017

Prospective investigation of FOXP1 syndrome.

Siper PM et al.

Molecular Autism, 2017

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels

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

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

Worthey EA et al.

Journal of Neurodevelopmental Disorders, 2013

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

Hamdan FF et al.

American Journal of Human Genetics, 2010

[Genetic megalencephaly].

Momoi MY

Ryoikibetsu Shokogun Shirizu, 2000

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