Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.T173fs
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RAG1

NM_000448.3:p.T173fs

Associated Papers

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K et al.

Frontiers in Immunology, 2017

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

de Villartay JP et al.

The Journal of Clinical Investigation, 2005

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."