Article
The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Feb 2020
Milanowski Łukasz, Hoffman-Zacharska Dorota, Geremek Maciej, Friedman Andrzej, Figura Monika, Koziorowski Dariusz
Abstract excerpt
Next Generation Sequencing (NGS), has now become a very powerful tool for decoding variants of genes involved in pathogenesis of number of human disorders. One of the challenges of this method is to decipher the real pathogenic variants from a number of identified, not related to the disorder in analyzed case. Another issue is recognition of new phenotypes previously unrecognized but related to new variants...
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