DOI:
10.1055/s-00000041
Neuropediatrics
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References
Rosenburg EH, Martinez Munoz C, Betsalel OT, Dooren SJ van, Fernandez M, Jakobs C, Grauw TJ, Kleefstra T, Schwartz CE, Salomons GS.
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Hum Mutat 2007; 9: 890-896
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