CPS1
HGNC:2323 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
2Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in CPS1 publicationsLinked variants
Variants normalized to CPS1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| rs1047891 | rs1047891 | 1 | 1 |
| rs150813342 | rs150813342 | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 24 | 1 |
| Not specified | — | 19 | 1 |
| Not specified | — | 459 | 1 |
Supporting publications
3 records- 2024Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.Journal of inherited metabolic diseasePubMed ↗
- 2020Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism.Frontiers in pharmacologyPubMed ↗
- 2016Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.American journal of human geneticsPubMed ↗