Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.R212*
Back to variants list

IL12RB1

NM_005535.3:p.R212*

Associated Papers

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Severe cases of BCGosis-susceptible primary immunodeficiency diseases identified by next-generation sequencing: Implications for adjustment of BCG vaccination timing in China.

Liu G et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020

Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease.

Nabhani S et al.

Haematologica, 2015

Disseminated Mycobacterium genavense infection after immunosuppressive therapy shows underlying new composite heterozygous mutations of β1 subunit of IL-12 receptor gene.

Tassone L et al.

The Journal of Allergy and Clinical Immunology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."