Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.R525Q
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FOXP1

NM_001349338.3:p.R525Q

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

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Biorxiv : the Preprint Server for Biology, 2025

40488133 (PubMed )
Supplement: media-2.xlsx › ClinVar

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

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM3_ESM.xlsx › SuppTable1

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Han L et al.

Molecular Genetics & Genomic Medicine, 2019

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

Johnson TB et al.

Scientific Reports, 2018

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

Myers A et al.

American Journal of Medical Genetics. Part A, 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.

Bekheirnia MR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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."