Varaico: Literature-Extracted Genetic Variants

Gene:FOXP4
Variant:p.Q65delFs
Back to variants list

FOXP4

NM_001012426.2:p.Q65delFs

Associated Papers

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia.

Pendleton KE et al.

Journal of Pediatric Genetics, 2024

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

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

33110267 (PubMed )
Supplement: 41436_2020_1016_MOESM1_ESM.xlsx › Blad1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."