单基因疾病的复杂基因组学。
The complex genomics of single gene disorders.
机构信息
Department of Neuroscience, The University of Sheffield, Sheffield, UK.
Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
出版信息
Eur J Hum Genet. 2023 Jun;31(6):609-610. doi: 10.1038/s41431-023-01386-w.
Abstract
Using genomic technologies we are beginning to identify some of the mechanisms underlying clinical variability in single gene disorders.
摘要
利用基因组技术，我们开始确定一些单基因疾病临床变异性的潜在机制。
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