Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.W534R
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FOXP1

NM_001349338.3:p.W534R

Associated Papers

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

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

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

Han L et al.

Molecular Genetics & Genomic Medicine, 2019

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

Urreizti R et al.

Scientific Reports, 2018

Prospective investigation of FOXP1 syndrome.

Siper PM et al.

Molecular Autism, 2017

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

Clinical whole exome sequencing in child neurology practice.

Srivastava S et al.

Annals of Neurology, 2014

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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."