Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia

Autor: Ibrahim, Ali Zaki, Thirumal Kumar, D., Abunada, Taghreed, Younes, Salma, George Priya Doss, C., Zaki, Osama K., Zayed, Hatem
Zdroj: In Molecular Genetics and Metabolism Reports December 2020 25
Databáze: ScienceDirect