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Deep generative models of LDLR protein structure to predict variant pathogenicity
The complex structure and function of low density lipoprotein receptor (LDLR) makes classification of protein-coding missense variants challenging. Deep generative models, including Evolutionary model of Variant Effect (EVE), Evolutionary Scale Modeling (ESM), and AlphaFold 2 (AF2), have enabled sig...
Autores principales: | James, Jose K., Norland, Kristjan, Johar, Angad S., Kullo, Iftikhar J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Biochemistry and Molecular Biology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696256/ http://dx.doi.org/10.1016/j.jlr.2023.100455 |
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