Varaico: Literature-Extracted Genetic Variants

Gene:IL12B
Variant:p.Y315_S316insT
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IL12B

NM_002187.3:p.Y315_S316insT

Associated Papers

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

Alodayani AN et al.

Journal of Clinical Immunology, 2018

Chronic Disseminated Salmonellosis in a Patient With Interleukin-12p40 Deficiency.

Alaki EM et al.

The Pediatric Infectious Disease Journal, 2018

Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.

Al-Owain M et al.

American Journal of Medical Genetics. Part A, 2012

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.

Pedraza S et al.

Pediatrics, 2010

A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.

Yancoski J et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2009

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

Picard C et al.

American Journal of Human Genetics, 2002

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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."