Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.Q203*
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WAS

NM_000377.3:p.Q203*

Associated Papers

Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.

Mallebranche C et al.

American Journal of Hematology, 2025

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2024

39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1

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

Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro.

Dewey RA et al.

Experimental Hematology, 2006

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

[Wiskott Aldrich syndrome associated to vasculitis: a therapeutic challenge].

Staines-Boon AT et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0

[Wiskott-Aldrich syndrome. A report of a new mutation].

Guillén-Rocha N et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 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."