Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism
出版年份 2019 全文链接
标题
Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism
作者
关键词
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出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-07-05
DOI
10.1038/s41436-019-0584-0
参考文献
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