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Unknownp.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.
Not available
S-EPMC6226515 | biostudies-literature
UnknownReplacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.
Not available
S-EPMC6192581 | biostudies-literature
UnknownMutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Not available
S-EPMC6997160 | biostudies-literature
UnknownFunctional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject.
Not available
S-EPMC9959173 | biostudies-literature
UnknownPredictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies.
Not available
S-EPMC10618353 | biostudies-literature
UnknownMLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants.
Not available
S-EPMC8617597 | biostudies-literature
UnknownOptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.
Not available
S-EPMC10987110 | biostudies-literature
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