Clinical exome sequencing (CES) identifies a novel homozygous variant in NECTIN1 causing CLPED1

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dc.contributor.authorGulec, Elif Yilmaz
dc.contributor.authorBudak, Gulden Yorgancioglu
dc.date.accessioned2025-11-16T19:35:05Z
dc.date.issued2024
dc.departmentİstanbul Medeniyet Üniversitesi
dc.description57th Conference of the European-Society-of-Human-Genetics (ESHG) -- JUN 01-04, 2024 -- Berlin, GERMANY
dc.description.abstract[Abstract Not Available]
dc.description.sponsorshipEuropean Soc Human Genetics
dc.identifier.endpage1000
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.startpage999
dc.identifier.urihttps://hdl.handle.net/20.500.14730/15530
dc.identifier.volume32
dc.identifier.wosWOS:001421430500538
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.language.isoen
dc.publisherSpringernature
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250302
dc.titleClinical exome sequencing (CES) identifies a novel homozygous variant in NECTIN1 causing CLPED1
dc.typeConference Object

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