Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.M110L
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RAG2

NM_000536.4:p.M110L

Associated Papers

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.

Haque N et al.

Iscience, 2023

37854700 (PubMed )
Supplement: mmc3.xlsx › Table_S2_RAG2_Scores_57_74

Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort.

Sanchez DA et al.

Frontiers in Immunology, 2023

Genetics and clinical phenotypes in common variable immunodeficiency.

Cunningham-Rundles C et al.

Frontiers in Genetics, 2023

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I et al.

The Journal of Allergy and Clinical Immunology, 2019

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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."