Genetic Architecture of Familial Hypercholesterolaemia.

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Annotation Summary

Term Occurence Count Dictionary
hypertriglyceridemia 1 endocrinologydiseases
hypobetalipoproteinemia 1 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
Select Disease Character Offset Disease Term Instance
hypertriglyceridemia 14659 combined hyperlipidaemia (FCH) but overlap between the FCH and FH phenotype has been shown before as hypertriglyceridemia can be seen due to many common genetic and environmental factors [[], []].Several studies have been
hypobetalipoproteinemia 10970 translated into a protein of 4563 amino acids [[]]. While truncation mutations in the APOB gene cause hypobetalipoproteinemia , mutations causing hypercholesterolaemia are due to missense mutations that result in ligand-defective

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