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[Advance in the application of molecular ruler-based RNA 3D dynamic analysis for the interpretation of variants of uncertain significance].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2026

Yang Zhuoxiao, Yan Yuanlong

Abstract excerpt

Functional interpretation of genetic variants is a core issue in precision medicine. A large number of "variants of uncertain significance" (VUS) have remained difficult to classify due to a lack of direct evidence showing alterations in protein-coding sequences. Meanwhile, they may cause disease by reshaping the conformational ensembles and energy landscapes of RNA molecules, a mechanism that extends beyond the...

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PMID: 42386667
DOI: 10.3760/cma.j.cn511374-20260107-00013

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