Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.K288*
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WAS

NM_000377.3:p.K288*

Associated Papers

A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature.

Alemayehu T et al.

Journal of Clinical Immunology, 2023

[Wiskott-Aldrich syndrome with platelets of normal size and c.295C>T mutation of the WAS gene. Case report].

Cunha-Carneiro ML et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 2023

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.

Glanzmann B et al.

Bmc Medical Genetics, 2020

Screening for Wiskott-Aldrich syndrome by flow cytometry.

Chiang SCC et al.

The Journal of Allergy and Clinical Immunology, 2018

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

Baharin MF et al.

Journal of Medical Case Reports, 2016

Wiskott-Aldrich Syndrome: Description of a New Gene Mutation With Normal Platelet Volume.

Yoonessi L et al.

Journal of Pediatric Hematology/oncology, 2015

[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

A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size.

Patel PD et al.

Pediatric Blood & Cancer, 2011

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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."