Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.H191R
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IKZF1

NM_006060.6:p.H191R

Associated Papers

Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.

González-Gil C et al.

Hemasphere, 2025

40420999 (PubMed )
Supplement: HEM3-9-e70148-s007.xlsx › SNV

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.

Zerella JR et al.

Frontiers in Oncology, 2023

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

AIOLOS Variants Causing Immunodeficiency in Human and Mice.

Yamashita M et al.

Frontiers in Immunology, 2022

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.

Yamashita M et al.

Nature Immunology, 2021

A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice.

Boast B et al.

Journal of Immunology (baltimore, Md. : 1950), 2021

Ikaros-Associated Diseases: From Mice to Humans and Back Again.

Boast B et al.

Frontiers in Pediatrics, 2021

Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1.

Sriaroon P et al.

Frontiers in Pediatrics, 2019

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Boutboul D et al.

The Journal of Clinical Investigation, 2018

The Ikaros family in lymphocyte development.

Heizmann B et al.

Current Opinion in Immunology, 2018

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Kuehn HS et al.

The New England Journal of Medicine, 2016

B-lineage transcription factors and cooperating gene lesions required for leukemia development.

Tijchon E et al.

Leukemia, 2013

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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."