Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.H101_F102delFs
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FOXP3

NM_014009.4:p.H101_F102delFs

Associated Papers

IPEX Syndrome: Genetics and Treatment Options.

Ben-Skowronek I

Genes, 2021

IPEX as a Consequence of Alternatively Spliced FOXP3.

Mailer RK

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

Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.

Okou DT et al.

Journal of Pediatric Gastroenterology and Nutrition, 2014

FOXP3: genetic and epigenetic implications for autoimmunity.

Katoh H et al.

Journal of Autoimmunity, 2013

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

d'Hennezel E et al.

Journal of Medical Genetics, 2012

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Harbuz R et al.

Prenatal Diagnosis, 2010

Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.

Rao A et al.

Blood, 2007

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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."