A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons

Source: Molecular Genetics and Metabolism Reports - January 10, 2021 Category: Genetics & Stem Cells Source Type: research