Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB2
Variant:p.G250E
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IL12RB2

NM_001374259.2:p.G250E

Associated Papers

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.

Ono R et al.

Journal of Clinical Immunology, 2023

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

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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."