Varaico: Literature-Extracted Genetic Variants

Gene:FOXN1
Variant:p.S188fs
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FOXN1

NM_001369369.1:p.S188fs

Associated Papers

Informed clinical decisions by outfoxing human FOXN1 variants.

Wysocki CA et al.

The Journal of Allergy and Clinical Immunology, 2025

Thymic inborn errors of immunity.

Pala F et al.

The Journal of Allergy and Clinical Immunology, 2025

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

Comprehensive phenotypic analysis of diverse FOXN1 variants.

Moses A et al.

The Journal of Allergy and Clinical Immunology, 2023

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.

Giardino G et al.

Journal of Clinical Immunology, 2021

Inborn errors of thymic stromal cell development and function.

Kreins AY et al.

Seminars in Immunopathology, 2021

FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.

Du Q et al.

The Journal of Clinical Investigation, 2019

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.

Bosticardo M et al.

American Journal of Human Genetics, 2019

Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency.

Albar R et al.

Bmj Case Reports, 2019

A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency.

Firtina S et al.

Journal of Clinical Immunology, 2019

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.

Gallo V et al.

Journal of Clinical Immunology, 2017

FOXN1 deficient nude severe combined immunodeficiency.

Rota IA et al.

Orphanet Journal of Rare Diseases, 2017

Severe combined immunodeficiency--an update.

Cirillo E et al.

Annals of the New York Academy of Sciences, 2015

A novel mutation in FOXN1 resulting in SCID: a case report and literature review.

Chou J et al.

Clinical Immunology (orlando, Fla.), 2014

[Immunodeficiency, Wiskott-Aldrich type].

Kim KC

Ryoikibetsu Shokogun Shirizu, 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."