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Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8

Evandro Ferrada,Tabea Wiedmer,Wen-An Wang,Fabian Frommelt,Barbara Steurer,Christoph Klimek,Sabrina Lindinger,Tanja Osthushenrich,Andrea Garofoli, Silvia Brocchetti, Samuel Bradberry,Jiahui Huang,Aidan MacNamara,Lia Scarabottolo,Gerhard F. Ecker, Anders Malarstig,Giulio Superti-Furga

JOURNAL OF MOLECULAR BIOLOGY（2024）

Cited 4|Views24
Key words
creatine,creatine transporter,creatine deficiency syndrome,solute carriers,genetic variants
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