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SCL6A8 mutation in female patient resulting in creatine transporterdeficiency
SCL6A8 mutation in female patient resulting in creatine transporterdeficiency
2018
Zuzanna Lewandowska
Barbara Steinborn
Włodzimierz Borkowski
Elżbieta Chlebowska
Katarzyna Karmelita-Katulska
Keywords:
Mutation
Epilepsy
Creatine
Medicine
Intellectual disability
Internal medicine
Creatine transporter deficiency
Endocrinology
female patient
Correction
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