Varaico: Literature-Extracted Genetic Variants

Gene:CD2
Variant:p.E250Q
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CD2

NM_001767.5:p.E250Q

Associated Papers

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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