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Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

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Description scientific article published on 5 November 2012
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author: Antonio Gambardella  Angelo Labate  Grazia Annesi  Patrizia Tarantino 

Publication date November 5, 2012
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