PMC5107619_01
CPS1 pathogenic variants identified in a patient with carbamoyl-phosphate synthetase 1 deficiency and her family members. CPS1 pathogenic variants were identified by whole exome sequencing in the patient (A) and were confirmed by Sanger sequencing in the patient and her family members (B).
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F1
These pathogenic variants were confirmed with Sanger sequencing (Fig. 1).