Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.R337*
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FOXP3

NM_014009.4:p.R337*

Associated Papers

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.

Pauta M et al.

Journal of Clinical Medicine, 2021

Intrauterine IPEX.

Carneiro-Sampaio M et al.

Frontiers in Pediatrics, 2020

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Yates CL et al.

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

Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death.

Shehab O et al.

Prenatal Diagnosis, 2017

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

Louie RJ et al.

American Journal of Medical Genetics. Part A, 2017

Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome.

Reichert SL et al.

American Journal of Medical Genetics. Part A, 2016

A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages.

Rae W et al.

Clinical Immunology (orlando, Fla.), 2015

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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."