人类遗传疾病突变的分子效应。
Molecular Effects of Mutations in Human Genetic Diseases.
机构信息
Department of Woman and Child Health, University of Padova, 35128 Padova, Italy.
Pediatric Research Institute, Città della Speranza, 35127 Padova, Italy.
出版信息
Int J Mol Sci. 2022 Jun 8;23(12):6408. doi: 10.3390/ijms23126408.
Abstract
Next-generation sequencing (NGS) has enormously improved the identification of disease-candidate genetic variants [...].
摘要
下一代测序（NGS）极大地提高了疾病候选基因突变的识别效率。
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