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Diez-Fernandez C, Hberle J (2017) Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder

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Goodman C, Keating G, Georgousopoulou E, Hespe C, Levett K

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myl7:EGFP) , which carried pathogenic LMNA variants that had been previously isolated and reported to cause EDMD 29
