Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R737C
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RAG1

NM_000448.3:p.R737C

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Pretransplant ribavirin and interferon-α therapy for rhinovirus interstitial pneumonia in a RAG1-deficient infant.

Harada N et al.

Journal of Infection and Chemotherapy : Official Journal of the Japan Society of Chemotherapy, 2024

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.

Karaatmaca B et al.

Clinical and Experimental Immunology, 2024

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.

Haque N et al.

Iscience, 2023

37854700 (PubMed )
Supplement: mmc7.xlsx › S6B-RAG1_Predicted

Neonatal Lymphopenia Screening Is Important for Early Diagnosis of Severe Combined Immunodeficiency.

Poyraz A et al.

American Journal of Perinatology, 2023

Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan.

Tanita K et al.

Frontiers in Immunology, 2022

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_2.xlsx › Table_E2_Previously_undiagnosed

Combined immunodeficiencies: twenty years experience from a single center in Turkey.

Akar HH et al.

Central-european Journal of Immunology, 2016

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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."