Varaico: Literature-Extracted Genetic Variants

Gene:IL12B
Variant:p.S176fs
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IL12B

NM_002187.3:p.S176fs

Associated Papers

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

Ramaswamy S et al.

Journal of Personalized Medicine, 2022

35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table3

Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.

Sharifinejad N et al.

Pediatric Rheumatology Online Journal, 2021

Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency.

Mahdaviani SA et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2021

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.

Mahdaviani SA et al.

Journal of Clinical Immunology, 2020

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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."