Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.I22insFs
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WAS

NM_000377.3:p.I22insFs

Associated Papers

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

Jin Y et al.

Blood, 2004

Clinical course of patients with WASP gene mutations.

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

Zhu Q et al.

Blood, 1997

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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."