Varaico: Literature-Extracted Genetic Variants

Gene:FOXP4
Variant:p.A514T
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FOXP4

NM_001012426.2:p.A514T

Associated Papers

FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma.

Presley W et al.

Investigative Ophthalmology & Visual Science, 2025

Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.

Del Viso F et al.

American Journal of Medical Genetics. Part A, 2023

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.

Snijders Blok L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."