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

Akcakaya, Nihan HandeSalman, BarışArgüden, Yelda TarkanGörmez, ZelihaDönmez, R.Çolakoğlu, Berril DönmezYapıcı, ZuhalHacıhanefioğlu, SenihaÖzbek, Uğurİşeri, Sibel Aylin Uğur2020-08-302020-08-302019Akcakaya, N. H., Salman, B., Arguden, Y. T., Gormez, Z., Donmez, R., Colakoglu, B., & Iseri, S. A. (2019). 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.1018-48131476-5438https://hdl.handle.net/20.500.12713/598Görmez, Zeliha (isu author)51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) -- JUN 16-19, 2018 -- Milan, ITALY[No Abstract Available]eninfo:eu-repo/semantics/closedAccessIdentification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencingConference Object27535536WOS:000489313104216Q2