A validated heart-specific model for splice-disrupting variants in childhood heart disease
已验证的针对儿童心脏病中剪接破坏性变异的心脏特异性模型
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-024-01383-8
Lesurf, Robert; Breckpot, Jeroen; Bouwmeester, Jade; Hanafi, Nour; Jain, Anjali; Liang, Yijing; Papaz, Tanya; Lougheed, Jane; Mondal, Tapas; Alsalehi, Mahmoud; Altamirano-Diaz, Luis; Oechslin, Erwin; Audain, Enrique; Dombrowsky, Gregor; Postma, Alex V; Woudstra, Odilia I; Bouma, Berto J; Hitz, Marc-Phillip; Bezzina, Connie R; Blue, Gillian M; Winlaw, David S; Mital, Seema