Associated Papers
Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2026
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J et al.
American Journal of Human Genetics, 2018
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