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E. Génin

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Open access Aug 2026

Context-dependent variant interpretation from Mendelian disease to genetic predisposition: a proof-of-concept using LPL

A context-dependent framework is proposed in which biallelic complete- or near-complete loss-of-function genotypes are interpreted as causative for FCS, whereas heterozygous variants are interpreted as predisposing to severe hypertriglyceridemia while retaining recognition of FCS carrier status.

Qi Yang, Wen-Bin Zou, Na Pu et al. · 0 citations

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