Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate G...
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort
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Author / Creator
Santin, Aurora , Spedicati, Beatrice , Morgan, Anna , Lenarduzzi, Stefania , Tesolin, Paola , Nardone, Giuseppe Giovanni , Mazzà, Daniela , Di Lorenzo, Giovanni , Romano, Federico , Buonomo, Francesca , Mangogna, Alessandro , Concas, Maria Pina , Zito, Gabriella , Ricci, Giuseppe and Girotto, Giorgia
Publisher
Basel: MDPI AG
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Language
English
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Publisher
Basel: MDPI AG
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Contents
Endometriosis (EM) is a common multifactorial gynaecological disorder. Although Genome-Wide Association Studies have largely been employed, the current knowledge of the genetic mechanisms underlying EM is far from complete, and other approaches are needed. To this purpose, whole-exome sequencing (WES) was performed on a deeply characterised cohort...
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Full title
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort
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TN_cdi_doaj_primary_oai_doaj_org_article_ef49f382ccb44ad0a6ab2c8ddaf4a7e2
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ef49f382ccb44ad0a6ab2c8ddaf4a7e2
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ISSN
2227-9059
E-ISSN
2227-9059
DOI
10.3390/biomedicines11082122