Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.P339S
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FOXP3

NM_014009.4:p.P339S

Associated Papers

A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.

Hou AN et al.

Journal of Clinical Immunology, 2023

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene.

Agakidis C et al.

Frontiers in Pediatrics, 2019

Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.

Duclaux-Loras R et al.

Clinical and Translational Gastroenterology, 2018

[A novel missense mutation of FOXP3 causes immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in a Chinese child].

An YF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

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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."