The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300446 |
| _version_ | 1818280074253697024 |
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| author | Nicole Ducich Nicholas Ah Mew Jirair K. Bedoyan |
| author_facet | Nicole Ducich Nicholas Ah Mew Jirair K. Bedoyan |
| author_sort | Nicole Ducich |
| collection | DOAJ |
| first_indexed | 2024-12-12T23:43:26Z |
| format | Article |
| id | doaj.art-36716fc017914ea0a174c0e01152364a |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-12T23:43:26Z |
| publishDate | 2020-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-36716fc017914ea0a174c0e01152364a2022-12-22T00:07:00ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-06-0123The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassificationNicole Ducich0Nicholas Ah Mew1Jirair K. Bedoyan2School of Medicine, Case Western Reserve University (CWRU), Cleveland, OH, USAChildren's National Rare Disease Institute, The George Washington University, Washington, DC, USADepartment of Genetics and Genome Sciences, CWRU, Cleveland, OH, USA; Department of Pediatrics, CWRU, Cleveland, OH, USA; Center for Human Genetics, University Hospitals Cleveland Medical Center (UHCMC), Cleveland, OH, USA; Center for Inherited Disorders of Energy Metabolism, UHCMC, Cleveland, OH, USA; Corresponding author at: Center for Human Genetics, University Hospitals Cleveland Medical Center, 11100 Euclid Avenue, Cleveland, OH 44106, USA.http://www.sciencedirect.com/science/article/pii/S2214426920300446OTCVariant of uncertain significance (VUS)HyperammonemiaVariant reclassification |
| spellingShingle | Nicole Ducich Nicholas Ah Mew Jirair K. Bedoyan The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification Molecular Genetics and Metabolism Reports OTC Variant of uncertain significance (VUS) Hyperammonemia Variant reclassification |
| title | The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification |
| title_full | The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification |
| title_fullStr | The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification |
| title_full_unstemmed | The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification |
| title_short | The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification |
| title_sort | e273del variant of uncertain significance of the ornithine transcarbamylase gene a case for reclassification |
| topic | OTC Variant of uncertain significance (VUS) Hyperammonemia Variant reclassification |
| url | http://www.sciencedirect.com/science/article/pii/S2214426920300446 |
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