Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration.
Michelle GruninSarah de JongEllen L PalmerBowen JinDavid RinkerChristopher MothAnthony CapraJonathan L HainesWilliam S BushAnneke I den Hollandernull nullPublished in: medRxiv : the preprint server for health sciences (2023)
identification of variants that impact gene expression allow for classification for previously classified as VUS. Further investigation is needed to validate the models for additional variants and to be applied to all AMD-associated genes.