Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.A124E
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WAS

NM_000377.3:p.A124E

Associated Papers

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.

Gök V et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

Rajmohan R et al.

Fems Yeast Research, 2009

Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E.

Fillat C et al.

Human Mutation, 2000

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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."