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35个未解决的遗传视网膜疾病家族的查副本数变化

Xiaozhen Liu1,2, Hehua Dai3, Genlin Li4

  • 1Department of Ophthalmology, Peking University Third Hospital, Beijing, 100191, China.

Human genetics
|January 28, 2024
PubMed
概括

副本数量变异 (CNVs) 显著导致遗传视网膜发育不良 (IRDs). 除了SNV和indels外,对CNV的查大大提高了IRD诊断率,识别了新突变并扩大了已知的遗传谱.

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