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MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants
Untreated familial hypercholesterolemia (FH) leads to atherosclerosis and early cardiovascular disease. Mutations in the low-density lipoprotein receptor (LDLr) gene constitute the major cause of FH, and the high number of mutations already described in the LDLr makes necessary cascade screening or...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8617597/ https://www.ncbi.nlm.nih.gov/pubmed/34869944 http://dx.doi.org/10.1016/j.jacbts.2021.08.009 |