Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.R55P
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SH2D1A

NM_002351.5:p.R55P

Associated Papers

Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.

Meazza R et al.

The Journal of Allergy and Clinical Immunology, 2014

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product.

Pasquier B et al.

The Journal of Experimental Medicine, 2005

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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."