Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.G424insFs
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WAS

NM_000377.3:p.G424insFs

Associated Papers

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.

Gök V et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Gaikwad P et al.

Journal of Clinical Immunology, 2024

Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing.

Yuan B et al.

Nature Communications, 2022

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

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.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

Screening for Wiskott-Aldrich syndrome by flow cytometry.

Chiang SCC et al.

The Journal of Allergy and Clinical Immunology, 2018

Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

Shin CR et al.

Bone Marrow Transplantation, 2012

Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Qasim W et al.

British Journal of Haematology, 2001

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.

Chuong HQ et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 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."