CRISPR-mediated functional mapping of IL2RG variants in primary human T cells predicts X-linked severe combined immunodeficiency
Yvonne Rong, Mikhail Vysotskiy, Peixin Amy Chen…·David N. Nguyen
The paper uses CRISPR to assess the functional impact of IL2RG variants in human T cells, confirming known annotations and identifying novel loss-of-function mutations.