Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP2
Variant:p.I282N
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PSTPIP2

NM_024430.4:p.I282N

Associated Papers

Increased neutrophil infiltration, IL-1 production and a SAPHO syndrome-like phenotype in PSTPIP2-deficient mice.

Liao HJ et al.

Rheumatology (oxford, England), 2015

PSTPIP2 deficiency in mice causes osteopenia and increased differentiation of multipotent myeloid precursors into osteoclasts.

Chitu V et al.

Blood, 2012

Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.

Hurtado-Nedelec M et al.

The Journal of Rheumatology, 2010

Primed innate immunity leads to autoinflammatory disease in PSTPIP2-deficient cmo mice.

Chitu V et al.

Blood, 2009

Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease.

Grosse J et al.

Blood, 2006

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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."