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RESEARCH ARTICLE

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration

Seda Susguna Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey;b Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey;c Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, TurkeyView further author information
,
Mert Demireld Department of Neurology, Faculty of Medicine, Hacettepe University, Ankara, TurkeyView further author information
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Gul Yalcin Cakmaklid Department of Neurology, Faculty of Medicine, Hacettepe University, Ankara, TurkeyView further author information
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Baris Salmana Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey;b Graduate School of Health Sciences, Istanbul University, Istanbul, TurkeyView further author information
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Kader K. Oguze Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, TurkeyView further author information
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Bulent Elibolf Department of Neurology, Institute of Neurological Sciences and Psychiatry, Hacettepe University School of Medicine, Ankara, TurkeyView further author information
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Sibel Aylin Ugur Iseria Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, TurkeyCorrespondence[email protected]
View further author information
&
Zuhal Yapicig Department of Neurology, Faculty of Medicine, Istanbul University, Istanbul, TurkeyView further author information
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Received 30 Apr 2022, Accepted 19 Apr 2023, Published online: 04 May 2023

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