Varaico: Literature-Extracted Genetic Variants

Gene:MSN
Variant:p.R533*
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MSN

NM_002444.3:p.R533*

Associated Papers

The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection.

Liu Q et al.

Journal of Clinical Immunology, 2025

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

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

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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."