P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG
| 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/S2949774424000682 |
| _version_ | 1797267610879918080 |
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| author | Deepika Pugalenthi Saravanan Estrella Lizbeth Mellin Sanchez Dustin Paul |
| author_facet | Deepika Pugalenthi Saravanan Estrella Lizbeth Mellin Sanchez Dustin Paul |
| author_sort | Deepika Pugalenthi Saravanan |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:19:20Z |
| format | Article |
| id | doaj.art-77560ada7b034df1a344447d2f9a7685 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:19:20Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-77560ada7b034df1a344447d2f9a76852024-03-09T09:30:08ZengElsevierGenetics in Medicine Open2949-77442024-01-012100922P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDGDeepika Pugalenthi Saravanan0Estrella Lizbeth Mellin Sanchez1Dustin Paul2Pennsylvania State College of MedicineUniversity of Florida, College of Medicine JacksonvillePennsylvania State College of Medicinehttp://www.sciencedirect.com/science/article/pii/S2949774424000682 |
| spellingShingle | Deepika Pugalenthi Saravanan Estrella Lizbeth Mellin Sanchez Dustin Paul P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG Genetics in Medicine Open |
| title | P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG |
| title_full | P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG |
| title_fullStr | P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG |
| title_full_unstemmed | P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG |
| title_short | P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG |
| title_sort | p045 unraveling the complexity of the cog complex a case report on a severe phenotype presentation of cog8 cdg |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424000682 |
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