Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.C335R
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RAG1

NM_000448.3:p.C335R

Associated Papers

Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder Slavic RAG1 variant: a case report and literature review.

Volodashchik TP et al.

Frontiers in Pediatrics, 2024

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

Primary Cutaneous Clonal CD8+ T-Cell Lymphoproliferative Disorder Associated With Immunodeficiency due to RAG1 Mutation.

Avitan-Hersh E et al.

The American Journal of Dermatopathology, 2020

Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.

Meshaal SS et al.

Clinical and Experimental Immunology, 2019

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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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."