Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.L215insFs
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IL12RB1

NM_005535.3:p.L215insFs

Associated Papers

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

Ouederni M et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2014

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L et al.

Medicine, 2010

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

de Beaucoudrey L et al.

The Journal of Experimental Medicine, 2008

18591412 (PubMed )
Supplement: jem.20080321_5.pdf

Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.

Tanir G et al.

European Journal of Pediatrics, 2006

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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."