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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IL12RB1

Variant:p.C271_P276del0

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IL12RB1

NM_005535.3:p.C271_P276del0

hg38:chr19:18072304 CAGGCGCCAGCCCTTGACA>C

Associated Papers

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.

Filipe-Santos O et al.

The Journal of Experimental Medicine, 2006

16818673 (PubMed )

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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."