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Article

Deep generative models of LDLR protein structure to predict variant pathogenicity.

Journal of lipid research - 1 Dec 2023

James Jose K, Norland Kristjan, Johar Angad S, Kullo Iftikhar J

Abstract excerpt

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 significant progress in the prediction of protein structure and function. ESM and EVE directly estimate the likelihood...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 37821076
DOI: 10.1016/j.jlr.2023.100455
PMCID: PMC10696256

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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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