Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.P359T
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WAS

NM_000377.3:p.P359T

Associated Papers

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature.

Hamanaka S et al.

Journal of Pediatrics. Clinical Practice, 2024

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

Shibata H et al.

Journal of Clinical Immunology, 2024

Small GTPase Cdc42, WASP, and scaffold proteins for higher-order assembly of the F-BAR domain protein.

Wan Mohamad Noor WNI et al.

Science Advances, 2023

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

Rajmohan R et al.

Fems Yeast Research, 2009

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

Jin Y et al.

Blood, 2004

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Derry JM et al.

Human Molecular Genetics, 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."