P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

Autor: Ramadesikan, Swetha, Colwell, Caitlyn, Marhabaie, Mohammad, Dublin-Ryan, Leeran, Showpnil, Iftekhar, Gurusamy, Umamaheswaran, Hunter, Jesse, Daley, Allison, Varga, Elizabeth, Leung, Marco, Stottmann, Rolf, Chaudhari, Bimal, Hickey, Scott, White, Peter, Koboldt, Daniel, Wilson, Richard
Zdroj: In Genetics in Medicine Open 2024 2 Supplement 1
Databáze: ScienceDirect