Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.D409_E412del0
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FOXP3

NM_014009.4:p.D409_E412del0

Associated Papers

Intrauterine IPEX.

Carneiro-Sampaio M et al.

Frontiers in Pediatrics, 2020

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.

Gambineri E et al.

Frontiers in Immunology, 2018

Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.

Smith E et al.

Journal of Pediatric Gastroenterology and Nutrition, 2016

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G et al.

Molecular Genetics and Metabolism, 2014

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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."