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A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.

Curtis M, Baribeau D, Walker S, Carter M, Costain G, Lamoureux S, Liston E, Marshall CR, Reuter MS, Snell M, Summers J, Vorstman J, Jobling RK. A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome. Am J Med Genet A. 2020 09; 182(9):2145-2151.

View in: PubMed