Mutationen im SCYL1-Gen identifiziert
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Die zehnjährige Suche, der sich Reginald Bittner und seine Kollegen gewidmet haben, ist von Erfolg gekrönt: Sie entdeckten die…
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Overview of attention for article published in American Journal of Human Genetics, November 2015
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