Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.S205del1
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RAG2

NM_000536.4:p.S205del1

Associated Papers

Compound heterozygous RAG2 mutations mimicking hyper IgM syndrome.

Riccetto AG et al.

Journal of Clinical Immunology, 2014

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.

Stoddard JL et al.

Frontiers in Immunology, 2014

25404929 (PubMed )
Supplement: Data_Sheet_1.XLSX › Table_S4
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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."