Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.F371L
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FOXP3

NM_014009.4:p.F371L

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

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

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

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

Barzaghi F et al.

Frontiers in Immunology, 2012

FOXP3 and its partners: structural and biochemical insights into the regulation of FOXP3 activity.

Zhou Z et al.

Immunologic Research, 2008

FOXP3 acts as a rheostat of the immune response.

Ochs HD et al.

Immunological Reviews, 2005

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

Wildin RS et al.

Journal of Medical Genetics, 2002

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Wildin RS et al.

Nature Genetics, 2001

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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."