Variant: rs797045586 

    present in Gene: FOXP1
    present in Chromosome: 3
    Position on Chromosome: 70972666
    Alleles of this Variant: C/T

rs797045586 in FOXP1 gene and MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES PMID 28741757 2017 Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

rs797045586 in FOXP1 gene and Multiple congenital anomalies PMID 26647308 2016 Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25853299 2015 A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

PMID 12692134 2003 Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors.

PMID 20950788 2010 De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

PMID 24214399 2013 FOXP1 mutations cause intellectual disability and a recognizable phenotype.

PMID 21572417 2011 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

PMID 20571508 2010 Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

PMID 22670142 2012 Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations.