Varaico: Literature-Extracted Genetic Variants

Gene:FOXP1
Variant:p.P568S
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FOXP1

NM_001349338.3:p.P568S

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

Human Genetics of Atrioventricular Septal Defect.

Maslen CL

Advances in Experimental Medicine and Biology, 2024

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

Myers A et al.

American Journal of Medical Genetics. Part A, 2017

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

28274167 (PubMed )
Supplement: supplement_1.doc

Genetic abnormalities in FOXP1 are associated with congenital heart defects.

Chang SW et al.

Human Mutation, 2013

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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."