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

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...

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Detalles Bibliográficos
Autores principales: Li, Chengcheng, Haller, Gabe, Weihl, Conrad C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871643/
https://www.ncbi.nlm.nih.gov/pubmed/35205425
http://dx.doi.org/10.3390/genes13020382

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871643/
https://www.ncbi.nlm.nih.gov/pubmed/35205425
http://dx.doi.org/10.3390/genes13020382

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