Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.T375I
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WAS

NM_000377.3:p.T375I

Associated Papers

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome.

Kolhatkar NS et al.

The Journal of Experimental Medicine, 2015

26371186 (PubMed )
Supplement: supp_jem.20150585_JEM_20150585_sm.pdf

Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.

Leblebisatan G et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2011

Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.

Davis BR et al.

Blood, 2008

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

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

Lemahieu V et al.

Human Mutation, 1999

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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."