Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.I444M
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RAG2

NM_000536.4:p.I444M

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

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Dasouki M et al.

Clinical and Experimental Immunology, 2020

Predicting the Occurrence of Variants in RAG1 and RAG2.

Lawless D et al.

Journal of Clinical Immunology, 2019

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

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

Alsmadi O et al.

Bmc Medical Genetics, 2009

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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."