Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.R34*
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WAS

NM_000377.3:p.R34*

Associated Papers

A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.

Razaghian A et al.

Journal of Clinical Immunology, 2026

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

Gaikwad P 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

Acquired Thrombotic Thrombocytopenic Purpura in a 5-Year-old Child With Wiskott-Aldrich Syndrome.

Özdemir Ö et al.

Journal of Pediatric Hematology/oncology, 2022

Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome.

Magnani A et al.

Nature Medicine, 2022

35075289 (PubMed )
Supplement: 41591_2021_1641_MOESM1_ESM.pdf

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

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

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.

Collins CJ et al.

Frontiers in Immunology, 2020

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

Mustafa AE et al.

Genes, 2018

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

Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity.

Braun CJ et al.

Science Translational Medicine, 2014

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome.

Mahlaoui N et al.

Blood, 2013

[Current status and future prospects of stem cell gene therapy for primary immunodeficiency].

Uchiyama T et al.

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2013

Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

Shin CR et al.

Bone Marrow Transplantation, 2012

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."