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Article

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2018

Reale Chiara, Panteghini Celeste, Carecchio Miryam, Garavaglia Barbara

Abstract excerpt

Next-Generation Sequencing (NGS) is a group of new methods that allow sequencing a variable number of known genes (targeted resequencing) or even the whole human genome (whole genome sequencing-WGS) and have contributed to an exponential genetic knowledge growth, especially in rare diseases, in the past few years. Since 2015, in the Molecular Neurogenetics Unit of Neurological Institute "Carlo Besta", some gene...

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PMID: 29396176
DOI: 10.1016/j.ejpn.2018.01.013

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