Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.R337P
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FOXP3

NM_014009.4:p.R337P

Associated Papers

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation.

Tuijnenburg P et al.

Frontiers in Pediatrics, 2017

The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Bin Dhuban K et al.

Current Opinion in Allergy and Clinical Immunology, 2015

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

d'Hennezel E et al.

Journal of Medical Genetics, 2012

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

Rubio-Cabezas O et al.

Diabetes Care, 2009

Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor.

Lopes JE et al.

Journal of Immunology (baltimore, Md. : 1950), 2006

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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."