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Article

Evaluating ClinGen variant curation expert panels' application of PVS1 code.

European journal of medical genetics - 1 Feb 2024

Wang Xiaoyan, Li Haibo, Luo Haiyan, Zou Yongyi, Li Haoxian, Qin Yayun, Song Jieping

Abstract excerpt

BACKGROUND: The 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines articulates that the effects of certain types of variants on gene function can often be seen as a complete absence of the gene product by leading to a lack of transcription or nonsense-mediated decay(NMD). However, detailed information considering different types of loss of...

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PMID: 38199457
DOI: 10.1016/j.ejmg.2024.104909

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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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