HIGHLIGHTS
- who: Viswanathan from the Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, WC N BG, UK have published the paper: Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia, in the Journal: (JOURNAL)
- what: Using this approach the authors demonstrated a high short tandem repeat (STR) density within childhood-onset genes suggesting that the authors may be missing pathogenic repeat expansions within this cohort. The analysis has implications for the current clinical practice in genetic testing for hereditary ataxia. The authors leveraged the critical mass . . .
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