Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.S82F
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WAS

NM_000377.3:p.S82F

Associated Papers

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.

Godinez-Zamora GF et al.

Frontiers in Immunology, 2025

41190063 (PubMed )
Supplement: Table2.xlsx › Sheet1

Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.

Lee WI et al.

International Archives of Allergy and Immunology, 2008

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

Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain.

Rong SB et al.

Journal of Molecular Medicine (berlin, Germany), 2000

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."