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Title : Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome - Rizvi_2023_Hum.Mol.Genet__ |
Author(s) : Rizvi M , Truong TK , Zhou J , Batta M , Moran ES , Pappas J , Chu ML , Caluseriu O , Evrony GD , Leslie EM , Cordat E |
Ref : Hum Mol Genet , : , 2023 |
Abstract : Rizvi_2023_Hum.Mol.Genet__ |
ESTHER : Rizvi_2023_Hum.Mol.Genet__ |
PubMedSearch : Rizvi_2023_Hum.Mol.Genet__ |
PubMedID: 36611016 |