ELENA AMAYA
OSTOLAZA ECHABE
PROFESORADO CATEDRATICO/A DE UNIVERSIDAD
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Hospital Miguel Servet
Zaragoza, EspañaPublications en collaboration avec des chercheurs de Hospital Miguel Servet (4)
2021
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MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants
JACC: Basic to Translational Science, Vol. 6, Núm. 11, pp. 815-827
2018
2016
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The p.Leu167del mutation in APOE gene causes autosomal dominant hypercholesterolemia by down-regulation of LDL receptor expression in hepatocytes
Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 5, pp. 2113-2121
2015
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Functional characterization and classification of frequent low-density lipoprotein receptor variants
Human Mutation, Vol. 36, Núm. 1, pp. 129-141