Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.T48A
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WAS

NM_000377.3:p.T48A

Associated Papers

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

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."