Varaico: Literature-Extracted Genetic Variants

Gene:FOXN1
Variant:p.R114*
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FOXN1

NM_001369369.1:p.R114*

Associated Papers

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

Marakhonov A et al.

Frontiers in Immunology, 2026

41727503 (PubMed )
Supplement: Table1.xlsx › Table_S4

Informed clinical decisions by outfoxing human FOXN1 variants.

Wysocki CA 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

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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."