Varaico: Literature-Extracted Genetic Variants

Gene:MSN
Variant:p.R553*
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MSN

NM_002444.3:p.R553*

Associated Papers

Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein-Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms.

Sun B et al.

Journal of Clinical Immunology, 2024

Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation.

Li M et al.

Clinical Immunology (orlando, Fla.), 2024

One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Ensinck MM et al.

Cells, 2022

A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report.

Fang Y et al.

Frontiers in Genetics, 2022

Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.

Kovács AL et al.

Frontiers in Immunology, 2022

When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.

Sprenkeler EGG et al.

Journal of Innate Immunity, 2021

Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP.

Tangye SG et al.

Immunology and Cell Biology, 2019

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.

Bradshaw G et al.

Frontiers in Immunology, 2018

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

Lagresle-Peyrou C et al.

The Journal of Allergy and Clinical Immunology, 2016

Apical CFTR expression in human nasal epithelium correlates with lung disease in cystic fibrosis.

van Meegen MA et al.

Plos One, 2013

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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."