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Article

Current and Future Approaches to Classify VUSs in LGMD-Related Genes.

Genes - 19 Feb 2022

Li Chengcheng, Haller Gabe, Weihl Conrad C

Abstract excerpt

Next-generation sequencing (NGS) has revealed large numbers of genetic variants in LGMD-related genes, with most of them classified as variants of uncertain significance (VUSs). VUSs are genetic changes with unknown pathological impact and present a major challenge in genetic test interpretation and disease diagnosis. Understanding the phenotypic consequences of VUSs can provide clinical guidance regarding LGMD...

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PMID: 35205425
DOI: 10.3390/genes13020382
PMCID: PMC8871643

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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