Varaico: Literature-Extracted Genetic Variants

Gene:FOXN1
Variant:p.V294I
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FOXN1

NM_001369369.1:p.V294I

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1A

Informed clinical decisions by outfoxing human FOXN1 variants.

Wysocki CA et al.

The Journal of Allergy and Clinical Immunology, 2025

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Biorxiv : the Preprint Server for Biology, 2025

40488133 (PubMed )
Supplement: media-2.xlsx › gnomAD

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

Immune Reconstitution Inflammatory Syndrome After Hematopoietic Stem Cell Transplantation in a FOXN1 -deficient Patient.

Corbali O et al.

Journal of Pediatric Hematology/oncology, 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

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

Firtina S et al.

Journal of Clinical Immunology, 2019

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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."