Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.T77N
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RAG1

NM_000448.3:p.T77N

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

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

Human RAG mutations: biochemistry and clinical implications.

Notarangelo LD et al.

Nature Reviews. Immunology, 2016

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.

Schuetz C et al.

The Journal of Allergy and Clinical Immunology, 2014

An immunodeficiency disease with RAG mutations and granulomas.

Schuetz C et al.

The New England Journal of Medicine, 2008

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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."