Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.R86P
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WAS

NM_000377.3:p.R86P

Associated Papers

Allogeneic hematopoietic stem cell transplantation outcome in oldest known surviving patients with Wiskott-Aldrich syndrome.

Anantharachagan A et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

Understanding immunoactinopathies: A decade of research on WAS gene defects.

Vieira RC et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

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

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

Schindelhauer D et al.

Human Genetics, 1996

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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."