A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis

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dc.contributor.authorAkcakaya, Nihan Hande
dc.contributor.authorSalman, Baris
dc.contributor.authorGormez, Zeliha
dc.contributor.authorArguden, Yelda Tarkan
dc.contributor.authorCirakoglu, Ayse
dc.contributor.authorCakmur, Raif
dc.contributor.authorColakoglu, Berril Donmez
dc.contributor.authorHacihanefioglu, Seniha
dc.contributor.authorOzbek, Ugur
dc.contributor.authorYapici, Zuhal
dc.contributor.authorIseri, Sibel Aylin Ugur
dc.date.accessioned2025-10-16T15:24:12Z
dc.date.issued2019
dc.identifier.doi10.1007/s12017-018-08522-6
dc.identifier.otherWOS:000458670800006
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/8075
dc.publisherHUMANA PRESS INC
dc.sourceNEUROMOLECULAR MEDICINE
dc.subjectWDR45
dc.subjectMosaicism
dc.subjectWhole exome sequencing
dc.subjectX chromosome heterozygosity
dc.subjectBPAN
dc.titleA Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis
dc.typeArticle

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