Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
第一作者:
Minjie,Luo
第一单位:
Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
作者:
医学主题词
人类(Humans);生殖细胞系突变(Germ-Line Mutation);肿瘤抑制蛋白质p53(Tumor Suppressor Protein p53);儿童(Child);Li-Fraumeni综合征(Li-Fraumeni Syndrome);肿瘤(Neoplasms);男(雄)性(Male);女(雌)性(Female);儿童, 学龄前(Child, Preschool);青少年(Adolescent);疾病遗传易感性(Genetic Predisposition to Disease);DNA拷贝数变异(DNA Copy Number Variations);基因检测(Genetic Testing);患病率(Prevalence);婴儿(Infant)
DOI
10.1093/jnci/djae102
PMID
38702830
发布时间
2024-08-08
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