Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.D259_V260Splc
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WAS

NM_000377.3:p.D259_V260Splc

Associated Papers

A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.

Razaghian A et al.

Journal of Clinical Immunology, 2026

Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.

Mallebranche C et al.

American Journal of Hematology, 2025

Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.

Kojima D et al.

The Journal of Allergy and Clinical Immunology, 2016

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Crestani E et al.

The Journal of Allergy and Clinical Immunology, 2015

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."