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Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.

Zhen ZhangYi-Shuang XiaoRu ShenHong-Chao JiangLi TanRen-Qiu LiXiao-Hong YangHuai-Yu GuWen-Ji HeJing Ma
Published in: BMC medical genetics (2020)
It's the first report to describe RB1 mutations in Yunnan children with retinoblastoma. This study would improve role of genetic testing for management and family screening.
Keyphrases
  • copy number
  • young adults
  • genome wide
  • gene expression
  • dna methylation