P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425011240 |
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| _version_ | 1849711410699829248 |
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| author | Shelly Goomber Catherine Rehder Benjamin Cocanougher Seung-Hye Jung Gregory Crawford Deeksha Bali Priya Kishnani |
| author_facet | Shelly Goomber Catherine Rehder Benjamin Cocanougher Seung-Hye Jung Gregory Crawford Deeksha Bali Priya Kishnani |
| author_sort | Shelly Goomber |
| collection | DOAJ |
| format | Article |
| id | doaj-art-43c8e196ff284c4985a1a132ca124db7 |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-43c8e196ff284c4985a1a132ca124db72025-08-20T03:14:38ZengElsevierGenetics in Medicine Open2949-77442025-01-01310308510.1016/j.gimo.2025.103085P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patientsShelly Goomber0Catherine Rehder1Benjamin Cocanougher2Seung-Hye Jung3Gregory Crawford4Deeksha Bali5Priya Kishnani6Department of Pediatrics, Division of Medical Genetics, Duke Health, Durham, NCDepartment of Pathology, Duke Health, Durham, NCDepartment of Pediatrics, Division of Medical Genetics, Duke Health, Durham, NCDepartment of Pediatrics, Division of Medical Genetics, Duke Health, Durham, NCDepartment of Pediatrics, Division of Medical Genetics, Duke Health, Durham, NCDepartment of Pediatrics, Division of Medical Genetics, Duke Health, Durham, NCDepartment of Pediatrics, Division of Medical Genetics, Duke Health, Durham, NChttp://www.sciencedirect.com/science/article/pii/S2949774425011240 |
| spellingShingle | Shelly Goomber Catherine Rehder Benjamin Cocanougher Seung-Hye Jung Gregory Crawford Deeksha Bali Priya Kishnani P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients Genetics in Medicine Open |
| title | P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients |
| title_full | P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients |
| title_fullStr | P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients |
| title_full_unstemmed | P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients |
| title_short | P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients |
| title_sort | p716 post translational processing of gaa protein associated with gaa variants may explain the clinical variability observed amongst pompe disease patients |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425011240 |
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