Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.E250Q
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CASP1

NM_001257118.3:p.E250Q

Associated Papers

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

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.

Smith EJ et al.

Current Genomics, 2010

Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene.

Hong JB et al.

Journal of the American Academy of Dermatology, 2009

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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."