Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.G187Splc
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WAS

NM_000377.3:p.G187Splc

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

Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.

Mallebranche C et al.

American Journal of Hematology, 2025

Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET).

Soresina A et al.

Eclinicalmedicine, 2025

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

Gaikwad P et al.

Journal of Clinical Immunology, 2024

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.

Vallée TC et al.

Blood, 2024

Accelerated death of megakaryocytes from Wiskott-Aldrich syndrome patients.

Obydennyi SI et al.

British Journal of Haematology, 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

Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families.

Jiang J et al.

Scandinavian Journal of Immunology, 2022

Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

Sudhakar M et al.

The Application of Clinical Genetics, 2021

Clinical Features, Cancer Biology, Transplant Approach and Other Integrated Management Strategies for Wiskott-Aldrich Syndrome.

Hosahalli Vasanna S et al.

Journal of Multidisciplinary Healthcare, 2021

Screening for Wiskott-Aldrich syndrome by flow cytometry.

Chiang SCC et al.

The Journal of Allergy and Clinical Immunology, 2018

Nuclear ARP2/3 drives DNA break clustering for homology-directed repair.

Schrank BR et al.

Nature, 2018

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Bastida JM et al.

Haematologica, 2018

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton.

Janssen E et al.

The Journal of Clinical Investigation, 2016

[Clinical features and genotype analysis of 132 patients with Wiskott-Aldrich syndrome].

Li W et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Crestani E et al.

The Journal of Allergy and Clinical Immunology, 2015

T-cell receptor diversity is selectively skewed in T-cell populations of patients with Wiskott-Aldrich syndrome.

Wu J et al.

The Journal of Allergy and Clinical Immunology, 2015

Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.

Oshima K et al.

Journal of Clinical Immunology, 2015

Current and emerging treatment options for Wiskott-Aldrich syndrome.

Worth AJ et al.

Expert Review of Clinical Immunology, 2015

A case of familial X-linked thrombocytopenia with a novel WAS gene mutation.

Lee EK et al.

Korean Journal of Pediatrics, 2013

IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family.

Yoon SH et al.

Pediatric Blood & Cancer, 2012

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

Gulácsy V et al.

Molecular Immunology, 2011

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

Albert MH et al.

Blood, 2010

Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.

Lee PP et al.

Journal of Clinical Immunology, 2009

Wiskott-Aldrich syndrome.

Notarangelo LD et al.

Current Opinion in Hematology, 2008

The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.

Moratto D et al.

Expert Review of Clinical Immunology, 2007

The Wiskott-Aldrich syndrome.

Ochs HD et al.

The Journal of Allergy and Clinical Immunology, 2006

Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.

Lutskiy MI et al.

Journal of Immunology (baltimore, Md. : 1950), 2005

Structure and function of the Wiskott-Aldrich syndrome protein.

Ochs HD et al.

Current Opinion in Hematology, 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

Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.

Andreu N et al.

Journal of Human Genetics, 2003

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

[Wiskott-Aldrich syndrome].

Kuramoto A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977

[Clinical conditions and nursing of a child with Wiskott-Aldrich syndrome].

Hoshina K et al.

[kango Gijutsu] : [nursing Technique], 1976

Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation.

Andreu N et al.

Blood Cells, Molecules & Diseases, 0

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."