Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.L411P
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RAG1

NM_000448.3:p.L411P

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: mmc2.xlsx › Table_S1_RAG1_Scores_125_74

Crystal structure of the V(D)J recombinase RAG1-RAG2.

Kim MS et al.

Nature, 2015

RAG1 reversion mosaicism in a patient with Omenn syndrome.

Crestani E et al.

Journal of Clinical Immunology, 2014

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Lee YN et al.

The Journal of Allergy and Clinical Immunology, 2014

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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."