Identification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing

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dc.contributor.authorAkcakaya, N. H.
dc.contributor.authorSalman, B.
dc.contributor.authorArguden, Y. Tarkan
dc.contributor.authorGormez, Z.
dc.contributor.authorDonmez, R.
dc.contributor.authorColakoglu, B.
dc.contributor.authorYapici, Z.
dc.contributor.authorHacihanefioglu, S.
dc.contributor.authorOzbek, U.
dc.contributor.authorIseri, S. A. Ugur
dc.date.accessioned2025-10-16T15:23:20Z
dc.date.issued2019
dc.description.abstract51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018
dc.identifier.otherWOS:000489313104216
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/7972
dc.publisherSPRINGERNATURE
dc.sourceEUROPEAN JOURNAL OF HUMAN GENETICS
dc.titleIdentification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing
dc.typeMeeting Abstract

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