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Article

The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients.

Journal of human genetics - 1 Sept 2024

Zhang Li, Shen Minna, Shu Xianhong, Zhou Jingmin, Ding Jing, Lin Huandong, Pan Baishen, Zhang Chunyan, Wang Beili, Guo Wei

Abstract excerpt

Since variants of uncertain significance (VUS) reported in genetic testing cannot be acted upon clinically, this classification may delay or prohibit precise diagnosis and genetic counseling in adult genetic disorders patients. Large-scale analyses about qualitatively distinct lines of evidence used for VUS can make them re-classification more accurately. We analyzed 458 Chinese adult patients WES data, within 15...

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Identifiers

PMID: 38839994
DOI: 10.1038/s10038-024-01263-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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