Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.E170K
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IKZF1

NM_006060.6:p.E170K

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

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
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