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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAG1

Variant:p.G392E

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RAG1

NM_000448.3:p.G392E

hg38:chr11:36574479 G>A

Associated Papers

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.

Matangkasombut P et al.

Blood, 2008

17890453 (PubMed )

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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."