Genomic technologies identify milder presentations of Mendelian disease.
作者信息
McNeill Alisdair
机构信息
Division of Neuroscience and Neuroscience Institute, 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. 2024 Sep;32(9):1033-1034. doi: 10.1038/s41431-024-01682-z.
Abstract
摘要
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本文引用的文献
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