Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.Y83*
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WAS

NM_000377.3:p.Y83*

Associated Papers

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

Mallebranche C et al.

American Journal of Hematology, 2025

Unraveling a novel missense mutation (c.A248C) in Wiskott-Aldrich syndrome gene by whole exome sequencing: Insights from dynamic simulation, molecular docking and in-silico studies.

Mohammad-Rezaei F et al.

International Immunopharmacology, 2025

SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.

Sarkar K et al.

Blood, 2015

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

Albert MH et al.

Blood, 2010

Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

Andreu N et al.

International Journal of Molecular Medicine, 2007

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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."