P356: VUS in RHOBTB2 gene detected on rapid whole genome sequencing in a patient with worsening seizures and developmental regression
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423003849 |
| _version_ | 1797342009088802816 |
|---|---|
| author | Monika Williams Steven Trau Elizabeth Jalazo |
| author_facet | Monika Williams Steven Trau Elizabeth Jalazo |
| author_sort | Monika Williams |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:26:16Z |
| format | Article |
| id | doaj.art-10aed763d9c440a7afd7b1409f2f6ec1 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:26:16Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-10aed763d9c440a7afd7b1409f2f6ec12024-01-27T07:08:02ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100384P356: VUS in RHOBTB2 gene detected on rapid whole genome sequencing in a patient with worsening seizures and developmental regressionMonika Williams0Steven Trau1Elizabeth Jalazo2UNC School of Medicine, Division of Pediatric Genetics and MetabolismUNC School of Medicine, Division of Child Neurology; Department of NeurologyUNC School of Medicine, Division of Pediatric Genetics and Metabolismhttp://www.sciencedirect.com/science/article/pii/S2949774423003849 |
| spellingShingle | Monika Williams Steven Trau Elizabeth Jalazo P356: VUS in RHOBTB2 gene detected on rapid whole genome sequencing in a patient with worsening seizures and developmental regression Genetics in Medicine Open |
| title | P356: VUS in RHOBTB2 gene detected on rapid whole genome sequencing in a patient with worsening seizures and developmental regression |
| title_full | P356: VUS in RHOBTB2 gene detected on rapid whole genome sequencing in a patient with worsening seizures and developmental regression |
| title_fullStr | P356: VUS in RHOBTB2 gene detected on rapid whole genome sequencing in a patient with worsening seizures and developmental regression |
| title_full_unstemmed | P356: VUS in RHOBTB2 gene detected on rapid whole genome sequencing in a patient with worsening seizures and developmental regression |
| title_short | P356: VUS in RHOBTB2 gene detected on rapid whole genome sequencing in a patient with worsening seizures and developmental regression |
| title_sort | p356 vus in rhobtb2 gene detected on rapid whole genome sequencing in a patient with worsening seizures and developmental regression |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423003849 |
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