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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IL12RB1

Variant:p.S244L

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IL12RB1

NM_005535.3:p.S244L

hg38:chr19:18073569 G>A

Associated Papers

Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.

Liu M et al.

Journal of Clinical Immunology, 2020

32221732 (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."