SCIENTIFIC LITERATURE · MED

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

Akçakaya NH, Salman B, Görmez Z, Tarkan Argüden Y, Çırakoğlu A, Çakmur R, Dönmez Çolakoğlu B, Hacıhanefioğlu S, Özbek U, Yapıcı Z, Uğur İşeri SA.

Neuromolecular Med · 2019-01-05

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