Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.M256V
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FOXP3

NM_014009.4:p.M256V

Associated Papers

A novel FOXP3 mutation in a Chinese child with IPEX-associated membranous nephropathy.

Tan L et al.

Molecular Genetics & Genomic Medicine, 2022

Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China-expanding the atypical phenotypes.

Huang Y et al.

Frontiers in Immunology, 2022

Case Report: Eosinophilic gastritis with pyloric stenosis in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Yu R et al.

Frontiers in Pediatrics, 2022

Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports.

Fang Y et al.

Medicine, 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."