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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
Chiara, Matteo, Primon, Ilaria, Tarantini, Letizia, Agnelli, Luca, Brancaleoni, Valentina, Granata, Francesca, Bollati, Valentina, Di Pierro, ElenaLanguage:
english
Journal:
Genetics in Medicine
DOI:
10.1038/s41436-019-0584-0
Date:
July, 2019
File:
PDF, 1.17 MB
english, 2019