Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.E285insFs
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WAS

NM_000377.3:p.E285insFs

Associated Papers

A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report.

Baharin MF et al.

Journal of Medical Case Reports, 2016

[The gene mutation analysis of a Wiskott-Aldrich syndrome family with normal mean platelet volume].

Zhang J et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2015

X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations.

Mantadakis E et al.

Pediatric Blood & Cancer, 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."