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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）

Cited 0|Views4
Key words
Congenital Heart Disease,Genomics,RNA splicing,Non-canonical,Machine Learning
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