Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.

Publication Year: 2021

DOI:
10.1002/humu.24221

PMCID:
PMC8362079

PMID:
34015158

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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3/6
50.0% Transparent
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"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."

Evidence found in paper:

"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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Paper is freely available to read
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Last Updated: Aug 05, 2025