Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."
"This study was supported by FEDER—Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020—Operational Program for Competitiveness and Internationalization (POCI), Portugal 2020, and by Portuguese funding through FCT ‐ Fundação para a Ciência e a Tecnologia, within the framework of the Project POCI‐01–0145‐FEDER‐007274 to i3S and by FCT research Project POCI‐01–0145‐FEDER‐29723. CS holds an FCT PhD Fellowship (SFRH/BD/137925/2018). ARC holds an FCT PhD Fellowship (SFRH/BD/141702/2018). The funders had no role in the design, collection, analysis or interpretation of the data, or in the writing of the manuscript."
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Last Updated: Aug 05, 2025