Associated Papers
From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.
Taghizadeh Mortezaei N et al.
Bmc Pediatrics, 2024
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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Analysis of mutations and recombination activity in RAG-deficient patients.
Asai E et al.
Clinical Immunology (orlando, Fla.), 2011
Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.
Couëdel C et al.
The Journal of Clinical Investigation, 2010
PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks.
Baker LA et al.
Mutation Research, 2008
The roles of the RAG1 and RAG2 "non-core" regions in V(D)J recombination and lymphocyte development.
Jones JM et al.
Archivum Immunologiae Et Therapiae Experimentalis, 0
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