Heterozygosity for pathogenic variants in familial chylomicronemia syndrome genes: from carrier state to complex trait
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Purpose of review: Biallelic loss-of-function (LOF) variants in any of five canonical genes - LPL, GPIHBP1, APOA5, APOC2, and LMF1 - cause familial chylomicronemia syndrome (FCS), a rare and severe Mendelian disorder. Heterozygos... ...
