Article

Whole Exome Sequencing in Neurogenetic Diagnostic Odysseys: An Argentinian Experience

2016-06-23

Abstract excerpt

<h4>ABSTRACT</h4> Clinical variability is a hallmark of neurogenetic disorders. They involve widespread neurological entities such as neuropathies, ataxias, myopathies, mitochondrial encephalopathies, leukodystrophies, epilepsy and intellectual disabilities. Despite the use of considerable time and resources, the diagnostic yield in this field has been disappointingly low. This etiologic search has been called a...

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Literature Corpus work: 4c73d0d3-7106-57b9-84ed-a2460d3d7a55
DOI: 10.1101/060319

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