P726: Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing

Bibliographic Details
Main Authors: Sarah Barnett, Laura Rust, Alanna Cera, Lidija Gorsic, Nicole Boczek
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424007763