Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.Q99*
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SH2D1A

NM_002351.5:p.Q99*

Associated Papers

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1.

Marsh RA et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2014

Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.

Gifford CE et al.

Cytometry. Part B, Clinical Cytometry, 2014

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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."