Varaico: Literature-Extracted Genetic Variants

Gene:IL21R
Variant:p.T80_H82del0
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IL21R

NM_181078.3:p.T80_H82del0

Associated Papers

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.

Cagdas D et al.

Journal of Clinical Immunology, 2021

33929673 (PubMed )
Supplement: 10875_2021_1031_MOESM1_ESM.pdf

Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency.

Kotlarz D et al.

Current Opinion in Pediatrics, 2014

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.

Kotlarz D et al.

The Journal of Experimental Medicine, 2013

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