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Metabolic context and cellular ploidy enable functional classification of SDHB exon3 variants

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Year: 2026
Type: preprint
Source: Research Square
Authors: Natasha Lewis, Anja Richter, Andrés Cruz-Garcia, Katarina Fritz-Wallace, Marcel Gebhardt, Frank Tippmann, Doreen William, Evelin Schröck, Diana Le Duc, Susan Richter, Arne Jahn
Institutions: University Hospital Carl Gustav Carus, Technische Universität Dresden, University of Bergen, Nationales Centrum für Tumorerkrankungen Dresden, University of Auckland

Topic: Genomics and Rare Diseases
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: green

Funders: European Commission, Technische Universität Dresden
Awards: G6533600717, G8617552896
OpenAlex ID: W7203893853
Cites: 50
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