Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.R13*
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WAS

NM_000377.3:p.R13*

Associated Papers

Comprehensive clinical and immunologic characterization of Wiskott-Aldrich syndrome in Iran: a 10-year cohort study.

Esmaeilzadeh H et al.

Bmc Immunology, 2025

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

Gaikwad P et al.

Journal of Clinical Immunology, 2024

Wiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels.

Zhao Q et al.

Journal of Autoimmunity, 2024

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

Wiskott-Aldrich syndrome protein expression in female WAS carriers: A flow cytometry study from North India.

Basu S et al.

Pediatric Blood & Cancer, 2024

Rare solid tumors in a patient with Wiskott-Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature.

Coppola E et al.

Frontiers in Immunology, 2023

Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Villiger L et al.

Molecular Therapy. Nucleic Acids, 2021

34631280 (PubMed )
Supplement: mmc3.xlsx › Tabelle1

Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India.

Suri D et al.

Frontiers in Immunology, 2021

Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience

Haskoloğlu Ş et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020

Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome.

Sereni L et al.

The Journal of Allergy and Clinical Immunology, 2019

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

Gene therapy for Wiskott-Aldrich syndrome: here to stay.

Candotti F

The Lancet. Haematology, 2019

Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study.

Ferrua F et al.

The Lancet. Haematology, 2019

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

Wiskott-Aldrich Syndrome Presenting with JMML-Like Blood Picture and Normal Sized Platelets.

Patil RB et al.

Case Reports in Hematology, 2016

B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.

Castiello MC et al.

The Journal of Allergy and Clinical Immunology, 2015

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

Aiuti A et al.

Science (new York, N.y.), 2013

Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

Shin CR et al.

Bone Marrow Transplantation, 2012

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

Gulácsy V et al.

Molecular Immunology, 2011

Phenotypic and genotypic correction of WASP gene mutation in Wiskott-Aldrich syndrome by unrelated cord blood stem cell transplantation.

Lee YH et al.

Journal of Korean Medical Science, 2009

Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.

Lee WI et al.

International Archives of Allergy and Immunology, 2008

A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.

Kim HJ et al.

International Journal of Hematology, 2006

Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome.

Wada T et al.

Blood, 2005

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

Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan.

Chien YH et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2004

Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Bourne HC et al.

Pathology, 2004

Clinical course of patients with WASP gene mutations.

Imai K et al.

Blood, 2004

Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome.

Jo EK et al.

International Journal of Hematology, 2003

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

Schindelhauer D et al.

Human Genetics, 1996

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.

Zhu Q et al.

Blood, 1995

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.

Chuong HQ et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."