Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome
病例报告：深度测序和长读长基因组测序可改进先前对PIK3CD相关活化PI3Kδ综合征中存在性腺嵌合现象家族的遗传分析。
期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2024.1451212
Orellana, Halyn; Yan, Jia; Paul, Alex; Tokita, Mari; Ding, Yan; Ghosh, Rajarshi; Lewis, Katie L; Davis, Joie; Jamal, Leila; Jodarski, Colleen; Similuk, Morgan; Saucier, Nermina; Zhu, Zhanyang; Wang, Yihe; Wu, Sitao; Ruggieri, Jason; Su, Helen C; Uzel, Gulbu; Nahas, Shareef; Cooper, Megan; Walkiewicz, Magdalena A
