A Validated Heart-Specific Model for Splice-Disrupting Variants in Childhood Heart Disease
Robert Lesurf,Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain,Yijing Liang,Tanya Papaz,Jane Lougheed,Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz,Erwin Oechslin,Enrique Audain,Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra,Berto J. Bouma,Marc-Phillip Hitz,Connie R. Bezzina, Gillian M. Blue, David S. Winlaw,Seema Mital Genome Medicine（2024）
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Congenital Heart Disease,Genomics,RNA splicing,Non-canonical,Machine Learning
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