Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.A47D
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WAS

NM_000377.3:p.A47D

Associated Papers

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

Jain N et al.

Journal of Biomedical Science, 2014

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

Albert MH et al.

Blood, 2010

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

Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion.

Tsuboi S et al.

Embo Reports, 2006

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

Jin Y et al.

Blood, 2004

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/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

Zhu Q et al.

Blood, 1997

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.

Zhu Q et al.

Blood, 1995

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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."