Heterozygous missense RAD21 variant in a peripheral sclerocornea pedigree
Bi Ning Zhang, Tommy C.Y. Chan, Pancy O. S. Tam, Yu Liu, Chi Pui Pang, Vishal Jhanji, Li Jia Chen, Wai Kit Chu
The paper identifies a RAD21 variant in a family with sclerocornea, showing it cosegregates with the disease and reduces RAD21 cleavage.
bioRxiv · Mar 1, 2019 · PreprintGenetics