Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.M1_S2insFs
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WAS

NM_000377.3:p.M1_S2insFs

Associated Papers

Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET).

Soresina A et al.

Eclinicalmedicine, 2025

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

Albert MH et al.

Blood, 2010

Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro.

Dewey RA et al.

Experimental Hematology, 2006

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

Jin Y et al.

Blood, 2004

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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."