Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools

Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools

Carbamoyl phosphate synthetase I (CPS1) deficiency is a rare autosomal recessive metabolic abnormality cause by dysfunctionality of CPS1 and often result in unfavorable outcome. In this study, we presented the detailed laboratory features and genetic analysis of two patients with heterozygous varian...

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Bibliographic Details
Main Authors: Fei Li, Qin Cai, Wei Ji, Miao Xu, Guoli Tian, Fanyi Zeng
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Carbamoyl phosphate synthetase I deficiency
Urea cycle disorder
Pathogenicity interpretation
Missense variant
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000230
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