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Article

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel

Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases. We developed a curated list of 502 g...

**ao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R. Shea… in Scientific Reports (2023)