Varaico: Literature-Extracted Genetic Variants

Gene:MAGT1
Variant:p.P137S
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MAGT1

NM_001367916.1:p.P137S

Associated Papers

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

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Barrio-Hernandez I et al.

Nature Genetics, 2023

36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence

An Update on XMEN Disease.

Ravell JC et al.

Journal of Clinical Immunology, 2020

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Ravell JC et al.

The Journal of Clinical Investigation, 2020

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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."