CPS1

Carbamoyl phosphate synthetase 1 deficiency, a urea cycle disorder

1 article(s) in the watch · Constitutional genetics

Curated publications

A deep intronic CPS1 variant causing pseudo-exon activation identified in an adult with molecularly unconfirmed urea cycle disorder.

Carbamoyl phosphate synthetase 1 deficiency, a urea cycle disorder

Automatic aggregation page — a clinical introduction may be added.