P807: Investigating the use of SpliceAI in variant reanalysis of a cohort of fetuses with congenital brain abnormalities
| Title: | P807: Investigating the use of SpliceAI in variant reanalysis of a cohort of fetuses with congenital brain abnormalities |
|---|---|
| Authors: | McLean, Benjamin; Sneddon, Tam; Melville, Scott; Vora, Neeta; Powell, Bradford |
| Source: | Genetics in Medicine Open ; volume 3, page 103176 ; ISSN 2949-7744 |
| Publisher Information: | Elsevier BV |
| Publication Year: | 2025 |
| Collection: | ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| Document Type: | article in journal/newspaper |
| Language: | English |
| DOI: | 10.1016/j.gimo.2025.103176 |
| Availability: | https://doi.org/10.1016/j.gimo.2025.103176; https://api.elsevier.com/content/article/PII:S2949774425012154?httpAccept=text/xml; https://api.elsevier.com/content/article/PII:S2949774425012154?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.B0471C51 |
| Database: | BASE |