Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.S308*
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IL2RG

NM_000206.3:p.S308*

Associated Papers

Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency.

De Ravin SS et al.

Nature Communications, 2022

Genetics of SCID.

Cossu F

Italian Journal of Pediatrics, 2010

Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).

Kumaki S et al.

Human Genetics, 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."