Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.D330A
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MEFV

NM_000243.3:p.D330A

Associated Papers

Pyrin Modulates the Intracellular Distribution of PSTPIP1.

Waite AL et al.

Plos One, 2009

The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment.

Chae JJ et al.

Blood, 2008

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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."