Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.V50V
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WAS

NM_000377.3:p.V50V

Associated Papers

Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome.

Sereni L et al.

The Journal of Allergy and Clinical Immunology, 2019

WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells.

Marangoni F et al.

The Journal of Experimental Medicine, 2007

Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome.

Wada T et al.

Blood, 2005

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

Jin Y et al.

Blood, 2004

Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression.

Allavena P et al.

European Journal of Immunology, 2001

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."