Severity Ranking of Missense and Frameshift Genetic Variants in SCD1 by In Silico and In Vitro Functional Analysis
In conclusion, the large-scale identification of genetic variations needs to be supplemented with comprehensive functional characterization of these variations to facilitate adequate personalized prevention and treatment of lipid metabolism-related conditions.
Authors
- Gabriella Orosz (ORCID: https://orcid.org/0000-0002-2030-287X)
- Éva Kereszturi (ORCID: https://orcid.org/0000-0003-4778-3332)
- Miklós Csala (ORCID: https://orcid.org/0000-0002-3829-4361)
- Veronika Zámbó
- Hanna K. Susán
Institutions
- Semmelweis University (HU)
Publication Details
- Journal
- Nutrients
- Published
- 2024-09-26
- DOI
- https://doi.org/10.3390/nu16193259
- Primary Topic
- Lipid metabolism and biosynthesis
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Nemzeti Kutatási és Technológiai Hivatal
- Universität Regensburg