Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Dae Joong MaHyun-Seob LeeKwangsoo KimSeongmin ChoiInsoon JangSeo-Ho ChoChang Ki YoonEun Kyoung LeeHyeong Gon Yu

Published in: BMC medical genomics (2021)

This study demonstrated the distribution of causative genetic mutations in Korean IRD patients. The data will serve as a reference for future genetic screening and development of treatment modalities for Korean IRD patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
big data
deep learning
smoking cessation