Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.R717C
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MEFV

NM_000243.3:p.R717C

Associated Papers

Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.

Nurmi K et al.

Cell Reports. Medicine, 2024

Pathway paradigms revealed from the genetics of inflammatory bowel disease.

Graham DB et al.

Nature, 2020

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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."