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Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection - PubMed

Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection - PubMed

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https://pubmed.ncbi.nlm.nih.gov/32942679/

Familial hypercholesterolemia (FH) is associated with mutations in the low-density lipoprotein (LDL) receptor ( LDLR ), apolipoprotein B ( APOB ), and proprotein convertase subtilisin/kexin 9 ( PCSK9 ) genes. A pathological variant has not been identified in 30-70% of clinically diagn ...