Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.Q80R
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WAS

NM_000377.3:p.Q80R

Associated Papers

SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.

Sarkar K et al.

Blood, 2015

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

Gulácsy V et al.

Molecular Immunology, 2011

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

Albert MH et al.

Blood, 2010

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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."