P738: Novel PIGA-related disorder gene variant: Whole exome sequencing, postmortem sample analysis, and updated variant classification solves 20+ year diagnostic odyssey
| Autor: | Ourania Parra, Edward Hughes, Dana Wright, Stephanie Vallee, Mary Beth Dinulos, Wahab Khan |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Genetics in Medicine Open, Vol 2, Iss , Pp 101642- (2024) |
| Druh dokumentu: | article |
| ISSN: | 2949-7744 |
| DOI: | 10.1016/j.gimo.2024.101642 |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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