Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.L27F
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WAS

NM_000377.3:p.L27F

Associated Papers

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Gaikwad P et al.

Journal of Clinical Immunology, 2024

X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis.

Jain N et al.

Journal of Biomedical Science, 2014

25200405 (PubMed )
Supplement: 12929_2014_91_MOESM1_ESM.pdf

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

Albert MH et al.

Blood, 2010

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."