Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.L435_D436insFs
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WAS

NM_000377.3:p.L435_D436insFs

Associated Papers

Advancements in gene therapy for Wiskott-Aldrich syndrome: from early trials to emerging approaches.

de Mambro L et al.

International Journal of Hematology, 2026

The Wiskott-Aldrich syndrome protein is required for positive selection during T-cell lineage differentiation.

Pille M et al.

Frontiers in Immunology, 2023

Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.

Ji X et al.

Orphanet Journal of Rare Diseases, 2022

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

Gene Correction of iPSCs from a Wiskott-Aldrich Syndrome Patient Normalizes the Lymphoid Developmental and Functional Defects.

Laskowski TJ et al.

Stem Cell Reports, 2016

The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006.

Stewart DM et al.

Journal of Clinical Immunology, 2007

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

Jin Y et al.

Blood, 2004

Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.

Wada T et al.

The Journal of Clinical Investigation, 2003

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

Zhu Q et al.

Blood, 1997

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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."