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Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.

Rizvi M, Truong TK, Zhou J, Batta M, Moran ES, Pappas J, Chu ML, Caluseriu O, Evrony GD, Leslie EM, Cordat E
Hum Mol Genet. 2023 Jan 5:ddac309. doi: 10.1093/hmg/ddac309. (Link opens in a new window) PubMed (Link opens in a new window) Article

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