Varaico: Literature-Extracted Genetic Variants

Gene:CD14
Variant:p.R92Q
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CD14

NM_000591.4:p.R92Q

Associated Papers

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

Grandemange S et al.

Molecular Genetics & Genomic Medicine, 2017

28361096 (PubMed )
Supplement: MGG3-5-110-s001.docx

Genetic variants associated with autoimmunity drive NFκB signaling and responses to inflammatory stimuli.

Housley WJ et al.

Science Translational Medicine, 2015

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.

Aganna E et al.

Arthritis and Rheumatism, 2003

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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."