Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.R173P
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IKBKG

NM_001099857.5:p.R173P

Associated Papers

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

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.

Tan Ç et al.

The Turkish Journal of Pediatrics, 2016

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L et al.

Medicine, 2010

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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."