A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report. - Yan, Lulu; He, Yan; Zhang, Yuxin; Liu, Yingwen; Xu, Limin; Han, Chunxiao; Zhao, Yudan; Li, Haibo (BMC Medical Genomics, 2023)