Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.G432delFs
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WAS

NM_000377.3:p.G432delFs

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

Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome.

Magnani A et al.

Nature Medicine, 2022

35075289 (PubMed )
Supplement: 41591_2021_1641_MOESM1_ESM.pdf

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.

Kim HJ et al.

International Journal of Hematology, 2006

Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.

Proust A et al.

Blood Cells, Molecules & Diseases, 0

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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."