Varaico: Literature-Extracted Genetic Variants

Gene:MAGT1
Variant:p.R137*
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MAGT1

NM_032121.5:p.R137*

Associated Papers

Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome.

Grombirikova H et al.

Journal of Immunology Research, 2025

Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency

Gutiérrez-Hincapié S et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2024

XMEN-associated Systemic EBV-positive T-cell Lymphoma of Childhood: Report of Two Cases and Literature Review.

Cao P et al.

Journal of Pediatric Hematology/oncology, 2024

HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum.

Golloshi K et al.

Journal of Clinical Immunology, 2024

Adult-onset neurodegeneration in XMEN disease.

Benavides D et al.

Journal of Neuroimmunology, 2024

Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients.

Peng X et al.

Frontiers in Genetics, 2022

Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.

Klinken EM et al.

Journal of Clinical Immunology, 2020

Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN).

Li FY et al.

European Journal of Human Genetics : Ejhg, 2015

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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."