Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.

Oriane Marmontel,Yara Abou-Khalil, Olivier Bluteau,Bertrand Cariou,Valérie Carreau,Sybil Charrière,Eleonore Divry,Antonio Gallo,Philippe Moulin,François Paillard,Noel Peretti,Jean-Pierre Rabès,Mathilde Varret,Alain Carrié,Mathilde Di Filippo

Arteriosclerosis, thrombosis, and vascular biology（2023）

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摘要

Although an incomplete penetrance should be taken into account for variant classification, these results suggest an additive effect of deleterious variants on ADH phenotype highlighting the relevance of sequencing.

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关键词

phenotype,rare variants

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