Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.H163Y
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IKZF1

NM_006060.6:p.H163Y

Associated Papers

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura.

Spivak I et al.

Pediatric Blood & Cancer, 2026

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

Identification and Validation of Ikaros (IKZF1) as a Cancer Driver Gene for Marek's Disease Virus-Induced Lymphomas.

Steep A et al.

Microorganisms, 2022

Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.

Kuehn HS et al.

Expert Review of Clinical Immunology, 2021

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.

Kuehn HS et al.

Journal of Clinical Immunology, 2021

Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1.

Sriaroon P et al.

Frontiers in Pediatrics, 2019

Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia.

Churchman ML et al.

Cancer Cell, 2018

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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."