Varaico: Literature-Extracted Genetic Variants

Gene:IKZF3
Variant:p.G191R
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IKZF3

NM_012481.5:p.G191R

Associated Papers

H195Y mutation of IKZF3 identified in a mouse model of precursor B cell acute lymphoblastic leukemia impairs transcriptional repression activity and increases protein stability.

Rysan H et al.

Journal of Leukocyte Biology, 2026

AIOLOS-Associated Inborn Errors of Immunity.

Yamashita M et al.

Journal of Clinical Immunology, 2024

Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency.

Shi X et al.

Journal of Clinical Immunology, 2024

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