Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter

Martin D. Salazar, Nathan B. Zelt, Robert Saldivar, Charles P. Kuntz, Sheng Chen, Wesley D. Penn, Richard Bonneau, Julia Koehler Leman, Jonathan P. Schlebach

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Biochemistry, Genetics and Molecular Biology