Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.Q305*
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WAS

NM_000377.3:p.Q305*

Associated Papers

Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study.

Anh PNL et al.

Orphanet Journal of Rare Diseases, 2026

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

Gaikwad P et al.

Journal of Clinical Immunology, 2024

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

Wiskott Aldrich syndrome protein regulates non-selective autophagy and mitochondrial homeostasis in human myeloid cells.

Rivers E et al.

Elife, 2020

33135633 (PubMed )
Supplement: elife-55547-fig1-data1.docx

Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.

Lutskiy MI et al.

Journal of Immunology (baltimore, Md. : 1950), 2005

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."