Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.R162P
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IKZF1

NM_006060.6:p.R162P

Associated Papers

Heterogeneity of IKZF1 genomic alterations and risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia.

Wang'ondu RW et al.

Leukemia, 2025

Heterogeneity of IKZF1 genomic alterations and risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia.

Mullighan C et al.

Research Square, 2024

Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.

Hoshino A et al.

Science Immunology, 2022

35333544 (PubMed )
Supplement: sciimmunol.abi7160_sm.pdf

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

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."