Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.T173delFs
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RAG1

NM_000448.3:p.T173delFs

Associated Papers

RAG1 lentiviral gene therapy restores T-cell development of RAG1-SCID patient cells in artificial thymic organoids.

Meng X et al.

Blood Advances, 2025

Omenn Syndrome due to RAG1 Mutation Presenting With Nonimmune Hydrops Fetalis in Two Siblings.

Valeri L et al.

Pediatrics, 2022

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.

Cifaldi C et al.

Journal of Clinical Immunology, 2022

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.

Kalina T et al.

Frontiers in Immunology, 2020

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

Sharapova SO et al.

Frontiers in Immunology, 2020

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Cifaldi C et al.

Frontiers in Immunology, 2019

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.

IJspeert H 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."