Varaico: Literature-Extracted Genetic Variants

Gene:IL12B
Variant:p.S100_L102delFs
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IL12B

NM_002187.3:p.S100_L102delFs

Associated Papers

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.

Barbouche MR et al.

Frontiers in Immunology, 2017

A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.

Ben-Mustapha I et al.

Immunogenetics, 2014

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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."