Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.C43W
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WAS

NM_000377.3:p.C43W

Associated Papers

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

Jain N et al.

Journal of Biomedical Science, 2014

25200405 (PubMed )
Supplement: 12929_2014_91_MOESM1_ESM.pdf

The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function.

Blundell MP et al.

Disease Markers, 2010

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

Rajmohan R et al.

Fems Yeast Research, 2009

Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.

Lutskiy MI et al.

Journal of Immunology (baltimore, Md. : 1950), 2005

A complex of N-WASP and WIP integrates signalling cascades that lead to actin polymerization.

Moreau V et al.

Nature Cell Biology, 2000

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

Rong SB et al.

Journal of Molecular Medicine (berlin, Germany), 2000

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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."