A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated with Pyrimidine-5′-Nucleotidase Deficiency: A Case Report

Sultan A. Köker, Yeşim Oymak, Paola Bianchi, Elisa Fermo, Tuba H. Karapinar, Salih Gözmen, Yilmaz Ay, Raziye C. Vergin

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