P726: Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing
| Title: | P726: Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing |
|---|---|
| Authors: | Barnett, Sarah; Rust, Laura; Cera, Alanna; Gorsic, Lidija; Boczek, Nicole |
| Source: | Genetics in Medicine Open ; volume 2, page 101630 ; ISSN 2949-7744 |
| Publisher Information: | Elsevier BV |
| Publication Year: | 2024 |
| Collection: | ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| Document Type: | article in journal/newspaper |
| Language: | English |
| DOI: | 10.1016/j.gimo.2024.101630 |
| Availability: | https://doi.org/10.1016/j.gimo.2024.101630; https://api.elsevier.com/content/article/PII:S2949774424007763?httpAccept=text/xml; https://api.elsevier.com/content/article/PII:S2949774424007763?httpAccept=text/plain |
| Rights: | https://www.elsevier.com/tdm/userlicense/1.0/ ; https://www.elsevier.com/legal/tdmrep-license ; http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Accession Number: | edsbas.5EA4A2F0 |
| Database: | BASE |