Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.S24F
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WAS

NM_000377.3:p.S24F

Associated Papers

When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura.

Jin YY et al.

Frontiers in Immunology, 2019

SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.

Sarkar K et al.

Blood, 2015

Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

Shin CR et al.

Bone Marrow Transplantation, 2012

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

Albert MH et al.

Blood, 2010

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

Wada T et al.

Blood, 2005

Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.

Lutskiy MI et al.

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

Clinical course of patients with WASP gene mutations.

Imai K et al.

Blood, 2004

WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction.

Shcherbina A et al.

Journal of Immunology (baltimore, Md. : 1950), 1999

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."