Article

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B

2026-02-24

Abstract excerpt

<title>Abstract</title> <p>Pathogenic germline variants in SDHB are associated with an increased risk for tumors such as pheochromocytoma and paraganglioma. However, limited functional evidence for rare variants poses a major challenge for clinical decision making. To systematically investigate potentially splice-associated variants of unknown significance (VUS) in SDHB, we created a minigene spanning exons 2-5 a...

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Literature Corpus work: 27c84819-4906-5b19-bf0d-e884e7421d50
DOI: 10.21203/rs.3.rs-8661010/v1

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