P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
| 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/S2949774424007453 |
| _version_ | 1797267384281595904 |
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| author | Dona Kanavy Jenny Goldstein Filippo Pinto e Vairo Deeksha Bali Xiangwen Chen-Deutsch Taraka Donti Shelly Goomber Jennifer McGlaughon Yinghong Pan Bryce Seifert Raquel Fernandez Emily Kyle Meredith Weaver Lorne Clarke Catherine Rehder |
| author_facet | Dona Kanavy Jenny Goldstein Filippo Pinto e Vairo Deeksha Bali Xiangwen Chen-Deutsch Taraka Donti Shelly Goomber Jennifer McGlaughon Yinghong Pan Bryce Seifert Raquel Fernandez Emily Kyle Meredith Weaver Lorne Clarke Catherine Rehder |
| author_sort | Dona Kanavy |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:15:44Z |
| format | Article |
| id | doaj.art-553edb151f4b4b878ba5e28cde90a06b |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:15:44Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-553edb151f4b4b878ba5e28cde90a06b2024-03-09T09:33:15ZengElsevierGenetics in Medicine Open2949-77442024-01-012101599P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe diseaseDona Kanavy0Jenny Goldstein1Filippo Pinto e Vairo2Deeksha Bali3Xiangwen Chen-Deutsch4Taraka Donti5Shelly Goomber6Jennifer McGlaughon7Yinghong Pan8Bryce Seifert9Raquel Fernandez10Emily Kyle11Meredith Weaver12Lorne Clarke13Catherine Rehder14UNC HealthUNC School of MedicineMayo ClinicDuke University Health SystemRevvityRevvityDuke University Health SystemInvitaeRevvityNational Institute of Allergy and Infectious DiseasesAmerican College of Medical Genetics and GenomicsAmerican College of Medical Genetics and GenomicsAmerican College of Medical Genetics and GenomicsUniversity of British ColumbiaDuke University Health Systemhttp://www.sciencedirect.com/science/article/pii/S2949774424007453 |
| spellingShingle | Dona Kanavy Jenny Goldstein Filippo Pinto e Vairo Deeksha Bali Xiangwen Chen-Deutsch Taraka Donti Shelly Goomber Jennifer McGlaughon Yinghong Pan Bryce Seifert Raquel Fernandez Emily Kyle Meredith Weaver Lorne Clarke Catherine Rehder P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease Genetics in Medicine Open |
| title | P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease |
| title_full | P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease |
| title_fullStr | P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease |
| title_full_unstemmed | P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease |
| title_short | P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease |
| title_sort | p695 uncertainty in interpretation of gaa variants detected through newborn screening without clinical manifestation of pompe disease |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424007453 |
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