Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.G594E
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IL12RB1

NM_005535.3:p.G594E

Associated Papers

T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Wang J et al.

Frontiers in Immunology, 2022

35572515 (PubMed )
Supplement: Table_2.xlsx › S6

Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.

Chi ZH et al.

Medicine, 2018

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

van de Vosse E et al.

Human Mutation, 2013

Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study.

Möller M et al.

Bmc Infectious Diseases, 2010

20525402 (PubMed )
Supplement: 1471-2334-10-154-S1.PDF

Association of polymorphisms in IL-12/IFN-gamma pathway genes with susceptibility to pulmonary tuberculosis in Indonesia.

Sahiratmadja E et al.

Tuberculosis (edinburgh, Scotland), 2007

Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency.

van de Vosse E et al.

Human Molecular Genetics, 2005

Genetic variations in the interleukin-12/interleukin-23 receptor (beta1) chain, and implications for IL-12 and IL-23 receptor structure and function.

van de Vosse E et al.

Immunogenetics, 2003

Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection.

Sakai T et al.

Blood, 2001

[Sodium deficiency caused by Seltin and drugs].

Levin IL

Lakartidningen, 0

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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."