Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.S875fs
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RAG1

NM_000448.3:p.S875fs

Associated Papers

Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.

Mou W et al.

Immunogenetics, 2023

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

Corneo B et al.

Blood, 2001

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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."