GeneticsbioRxivPreprint
Heterozygous missense RAD21 variant in a peripheral sclerocornea pedigree
Bi Ning Zhang, Tommy C.Y. Chan, Pancy O. S. Tam…·Wai Kit Chu
The paper identifies a RAD21 variant in a family with sclerocornea, showing it cosegregates with the disease and reduces RAD21 cleavage.
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