Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.D192E
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IL2RG

NM_000206.3:p.D192E

Associated Papers

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val11

Genetics of SCID.

Cossu F

Italian Journal of Pediatrics, 2010

A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans.

Li L et al.

Journal of Immunology (baltimore, Md. : 1950), 2002

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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."