Silent but significant - A synonymous SNV alters prognosis in Pompe disease

EBioMedicine. 2019 May:43:20-21. doi: 10.1016/j.ebiom.2019.04.015. Epub 2019 Apr 12.

¹ Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, 18147 Rostock, Germany. Electronic address: jan.lukas@med.uni-rostock.de.
² Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, 18147 Rostock, Germany; German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, 18147 Rostock, Germany.
³ Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

No abstract available

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