遗传性视网膜疾病的表型与基因型相关性：人群导向的变异解读、表现度可变和不完全外显率。
Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance.
机构信息
North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester M13 9WL, UK.
Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
出版信息
Genes (Basel). 2020 Oct 29;11(11):1274. doi: 10.3390/genes11111274.
Abstract
Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders [...].
摘要
遗传性视网膜疾病（IRDs）是一组多样化且多变的罕见人类疾病[...]。
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