Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.L46P
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WAS

NM_000377.3:p.L46P

Associated Papers

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

Gaikwad P et al.

Journal of Clinical Immunology, 2024

X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis.

Jain N et al.

Journal of Biomedical Science, 2014

Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

Rajmohan R et al.

Fems Yeast Research, 2009

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

Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.

Ho LL et al.

British Journal of Haematology, 2001

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."