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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

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Description scientific article published on 05 July 2019
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author: Valentina Brancaleoni  Elena Di Pierro  Matteo Chiara  Francesca Granata 

Publication date July 5, 2019
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