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
Author
Hacihanefioglu, S.
Yapici, Z.
Iseri, S. A. Ugur
Akcakaya, N. H.
Arguden, Y. Tarkan
Salman, B.
Gormez, Z.
Donmez, R.
Colakoglu, B.
Ozbek, U.
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- Bildiri [64839]