ArticleMolecular genetics and metabolism reports2022

Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.

Hsin-Ti Lin et al.PubMed ↗Full text ↗Publisher ↗

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