Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.V51F
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WAS

NM_000377.3:p.V51F

Associated Papers

Wiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels.

Zhao Q et al.

Journal of Autoimmunity, 2024

Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.

Ji X et al.

Orphanet Journal of Rare Diseases, 2022

A Novel Mutation in WAS Gene Causing a Phenotypic Presentation of Wiskott-Aldrich Syndrome: A Case Report.

Ochfeld E et al.

Journal of Pediatric Hematology/oncology, 2021

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2019

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

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."