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Retrospective investigation of the frequency of pathogenic and likely pathogenic variants in 81 genes associated with acmg secondary findings from 1600 clinical exome sequencing

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dc.contributor.authorPir, Mustafa
dc.contributor.authorSahin, Feride
dc.contributor.authorTerzi, Yunus Kasim
dc.contributor.buuauthorTEMEL, ŞEHİME GÜLSÜN
dc.contributor.buuauthorÖZEMRİ SAĞ, ŞEBNEM
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentGenetik Ana Bilim Dalı
dc.contributor.researcheridAAG-8385-2021
dc.contributor.researcheridAAH-8355-2021
dc.date.accessioned2025-10-21T10:18:46Z
dc.date.issued2024-12-01
dc.identifier.endpage1196
dc.identifier.issn1018-4813
dc.identifier.startpage1196
dc.identifier.urihttps://hdl.handle.net/11452/56407
dc.identifier.volume32
dc.identifier.wos001421430501199
dc.indexed.wosWOS.SCI
dc.indexed.wosWOS.ISTP
dc.language.isoen
dc.publisherSpringernature
dc.relation.journalEuropean journal of human genetics
dc.subjectScience & Technology
dc.subjectLife Sciences & Biomedicine
dc.subjectBiochemistry & Molecular Biology
dc.subjectGenetics & Heredity
dc.subjectBiochemistry & Molecular Biology
dc.titleRetrospective investigation of the frequency of pathogenic and likely pathogenic variants in 81 genes associated with acmg secondary findings from 1600 clinical exome sequencing
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Genetik Ana Bilim Dalı
local.indexed.atWOS
relation.isAuthorOfPublicationf513efaa-a54e-4cfa-840f-28e2fbdc001a
relation.isAuthorOfPublicationdf8aeae7-a31e-454f-a84a-198138a42763
relation.isAuthorOfPublication.latestForDiscoveryf513efaa-a54e-4cfa-840f-28e2fbdc001a

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