The matter of significance – Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?

•Whole exome sequencing become powerful tool in new pathogenic variants identification.•The TOR1A p.Glu121Lys is not pathogenic variant.•Genetic databeses should be updated based on the analysis on well characterized cohorts. Next Generation Sequencing (NGS), has now become a very powerful tool for...

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Veröffentlicht in:	Journal of clinical neuroscience 2020-02, Vol.72, p.501-503
Hauptverfasser:	Milanowski, Łukasz, Hoffman-Zacharska, Dorota, Geremek, Maciej, Friedman, Andrzej, Figura, Monika, Koziorowski, Dariusz
Format:	Artikel
Sprache:	eng
Schlagworte:	Differential diagnosis Parkinson disease Primary dystonia TOR1A WES
Online-Zugang:	Volltext
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