Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R112H
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RAG1

NM_000448.3:p.R112H

Associated Papers

Additive effects of common and rare genetic variants on inflammatory bowel disease risk in a cohort with immunodeficiency.

Srinivasan S et al.

The Journal of Allergy and Clinical Immunology, 2026

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

Expanded microbiome niches of RAG-deficient patients.

Blaustein RA et al.

Cell Reports. Medicine, 2023

37757827 (PubMed )
Supplement: mmc2.xlsx › Supp_Table_2_-_patient_data

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2019

Evolution of dark colour in toucans (Ramphastidae): a case of molecular adaptation?

Corso J et al.

Journal of Evolutionary Biology, 2016

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR et al.

The Journal of Allergy and Clinical Immunology. in Practice, 0

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