Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.R86S
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WAS

NM_000377.3:p.R86S

Associated Papers

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

Structure and function of the Wiskott-Aldrich syndrome protein.

Ochs HD et al.

Current Opinion in Hematology, 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

Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Bourne HC et al.

Pathology, 2004

[Wiskott-Aldrich syndrome].

Kuramoto A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977

[Clinical conditions and nursing of a child with Wiskott-Aldrich syndrome].

Hoshina K et al.

[kango Gijutsu] : [nursing Technique], 1976

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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."