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Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

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author: Vassili Valayannopoulos  Saadet Mercimek-Mahmutoglu  Thierry Billette de Villemeur  Miquel Raspall-Chaure  Allan M Lund 

Publication date March 6, 2014
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