Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.E250K
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CASP1

NM_001257118.3:p.E250K

Associated Papers

Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1.

Holzinger D et al.

Current Opinion in Rheumatology, 2016

Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome.

Omenetti A et al.

Rheumatology (oxford, England), 2016

Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

Demidowich AP et al.

Arthritis and Rheumatism, 2012

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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."