Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

Caro Lyne Desroches, Jaina Patel, Peixiang Wang, Berge Minassian, Christian R. Marshall, Gajja S. Salomons, Saadet Mercimek-Mahmutoglu

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Medicine & Life Sciences