GeneticsbioRxivPreprint
Age-related Macular Degeneration patient deep phenotyping and whole genome sequencing analysis identifies coding variants linking small low-luminance visual deficit to fat storage defects
Sehyun Kim, Amy Stockwell, Han Qin…·Marion Jeanne
The paper identifies coding variants in the CIDEC gene associated with small low-luminance visual deficit in AMD patients, showing an indirect effect on fat storage and lipid droplet fusion.
DOI 10.1101/2022.06.22.497149