Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.Q297*
Back to variants list

WAS

NM_000377.3:p.Q297*

Associated Papers

Genetic screening in a Brazilian cohort with inborn errors of immunity.

Ferreira CS et al.

Bmc Genomic Data, 2023

Wiskott-Aldrich syndrome protein interacts and inhibits diacylglycerol kinase alpha promoting IL-2 induction.

Velnati S et al.

Frontiers in Immunology, 2023

Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

Sudhakar M et al.

The Application of Clinical Genetics, 2021

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

Jin Y et al.

Blood, 2004

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

Zhu Q et al.

Blood, 1997

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."