Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Georgia Pitsava, Megan H. Hawley, Light Auriga…·Eric J. N. Vilain
Genome sequencing identifies pseudoexons as a common cause of Mendelian disease, with some variants missed by prior exome testing.
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