Varaico: Literature-Extracted Genetic Variants

Gene:IKZF3
Variant:p.L161R
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IKZF3

NM_012481.5:p.L161R

Associated Papers

AIOLOS Variants Causing Immunodeficiency in Human and Mice.

Yamashita M et al.

Frontiers in Immunology, 2022

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.

Kuehn HS et al.

The Journal of Experimental Medicine, 2021

A hotspot mutation in transcription factor IKZF3 drives B cell neoplasia via transcriptional dysregulation.

Lazarian G et al.

Cancer Cell, 2021

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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."