O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424000190 |
| _version_ | 1797267607322099712 |
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| author | Meena Sethuraman Erik Koppes Kaitlyn Scola Kaitlyn Bloom Al-Walid Mohsen Jerry Vockley |
| author_facet | Meena Sethuraman Erik Koppes Kaitlyn Scola Kaitlyn Bloom Al-Walid Mohsen Jerry Vockley |
| author_sort | Meena Sethuraman |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:19:16Z |
| format | Article |
| id | doaj.art-6f9c4f4f1c77463993f8d73625ad267e |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:19:16Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-6f9c4f4f1c77463993f8d73625ad267e2024-03-09T09:29:55ZengElsevierGenetics in Medicine Open2949-77442024-01-012100873O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiencyMeena Sethuraman0Erik Koppes1Kaitlyn Scola2Kaitlyn Bloom3Al-Walid Mohsen4Jerry Vockley5University of PittsburghDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of MedicineDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of MedicineDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of MedicineDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of MedicineDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicinehttp://www.sciencedirect.com/science/article/pii/S2949774424000190 |
| spellingShingle | Meena Sethuraman Erik Koppes Kaitlyn Scola Kaitlyn Bloom Al-Walid Mohsen Jerry Vockley O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency Genetics in Medicine Open |
| title | O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency |
| title_full | O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency |
| title_fullStr | O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency |
| title_full_unstemmed | O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency |
| title_short | O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency |
| title_sort | o17 characterizing pathogenicity of acadvl variants in very long chain acyl coa dehydrogenase deficiency |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424000190 |
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