Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.A740V
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RAG1

NM_000448.3:p.A740V

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

Novel Compound Heterozygous Mutations in RAG1 in a Patient with Cutaneous Lymphoproliferative Disease.

Xu CC et al.

Acta Dermato-venereologica, 2019

Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.

Bai X et al.

Immunologic Research, 2016

Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

Zhang ZY et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2011

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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."