Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.Q19*
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WAS

NM_000377.3:p.Q19*

Associated Papers

Gene Correction of Wiskott-Aldrich syndrome iPS Cells Rescues Proplatelet Defects and Improves Platelet Size.

Ingrungruanglert P et al.

Thrombosis and Haemostasis, 2025

Absence of WASp Enhances Hematopoietic and Megakaryocytic Differentiation in a Human Embryonic Stem Cell Model.

Toscano MG et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2016

Wiskott-Aldrich syndrome iPS cells produce megakaryocytes with defects in cytoskeletal rearrangement and proplatelet formation.

Ingrungruanglert P et al.

Thrombosis and Haemostasis, 2015

Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

Amarinthnukrowh P et al.

Scandinavian Journal of Immunology, 2013

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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."