Varaico: Literature-Extracted Genetic Variants

Gene:IKZF2
Variant:p.G153R
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IKZF2

NM_001387220.1:p.G153R

Associated Papers

Helios-Illuminating the way for lymphocyte self-control.

Hetemäki I et al.

Immunology, 2025

AIOLOS-Associated Inborn Errors of Immunity.

Yamashita M et al.

Journal of Clinical Immunology, 2024

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Mohajeri A et al.

Journal of Medical Genetics, 2023

Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function.

Chang J et al.

Frontiers in Immunology, 2023

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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."