Publication:
Phenotype does not necessarily follow genotype: Identification of an incompletely penetrant novel POLR1D variant as a likely cause of Treacher Collins syndrome

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dc.contributor.authorSah, H.
dc.contributor.authorSanlidag, B.
dc.contributor.authorManara, E.
dc.contributor.authorTerali, K.
dc.contributor.authorPaolacci, S.
dc.contributor.authorMocan, G.
dc.contributor.authorTemel, Şehime Gülsün
dc.contributor.authorDirik, E.
dc.contributor.authorBertelli, M.
dc.contributor.authorErgören, M. C.
dc.contributor.buuauthorTEMEL, ŞEHİME GÜLSÜN
dc.contributor.departmentBursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Bölümü
dc.contributor.researcheridAAG-8385-2021
dc.date.accessioned2024-07-26T06:09:47Z
dc.date.available2024-07-26T06:09:47Z
dc.date.issued2018-07-01
dc.identifier.endpage143
dc.identifier.issn2211-5463
dc.identifier.startpage143
dc.identifier.urihttps://hdl.handle.net/11452/43459
dc.identifier.volume8
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherWiley
dc.relation.journalFebs Open Bio
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectBiochemistry & molecular biology
dc.titlePhenotype does not necessarily follow genotype: Identification of an incompletely penetrant novel POLR1D variant as a likely cause of Treacher Collins syndrome
dc.typeMeeting Abstract
dspace.entity.typePublication
relation.isAuthorOfPublicationf513efaa-a54e-4cfa-840f-28e2fbdc001a
relation.isAuthorOfPublication.latestForDiscoveryf513efaa-a54e-4cfa-840f-28e2fbdc001a

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