Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Catherine SchrammCamille CharbonnierAline ZaréaMorgane LacourDavid Wallonnull nullAnne BolandJean-François DeleuzeRobert Olasonull nullFlora AlarconDominique CampionGrégory NuelGaël NicolasPublished in: Genome medicine (2022)
We conclude that SORL1-LoF variants should be interpreted in light of APOE genotypes for future clinical applications.