Varaico: Literature-Extracted Genetic Variants

Gene:MAGT1
Variant:p.F148insFs
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MAGT1

NM_032121.5:p.F148insFs

Associated Papers

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

Grombirikova H et al.

Journal of Immunology Research, 2025

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

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