Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.D867V
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RAG1

NM_000448.3:p.D867V

Associated Papers

Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience.

Pasic S et al.

Journal of Clinical Immunology, 2014

RAG-dependent primary immunodeficiencies.

Sobacchi C et al.

Human Mutation, 2006

N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

Santagata S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2000

The genetic and biochemical basis of Omenn syndrome.

Santagata S et al.

Immunological Reviews, 2000

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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."