Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.H224fs
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IKZF1

NM_006060.6:p.H224fs

Associated Papers

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

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

Tijchon E et al.

Leukemia, 2013

Genomic profiling of high-risk acute lymphoblastic leukemia.

Collins-Underwood JR et al.

Leukemia, 2010

Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia.

Mullighan CG et al.

The New England Journal of Medicine, 2009

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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."