P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family
| 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/S2949774424005107 |
| _version_ | 1797267484101836800 |
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| author | Kanika Parashar Kristen Wigby Annette Feigenbaum Miguel Del Campo |
| author_facet | Kanika Parashar Kristen Wigby Annette Feigenbaum Miguel Del Campo |
| author_sort | Kanika Parashar |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:17:19Z |
| format | Article |
| id | doaj.art-c9df7ae8d6fe47bbac6e4d78deab2f60 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:17:19Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-c9df7ae8d6fe47bbac6e4d78deab2f602024-03-09T09:32:17ZengElsevierGenetics in Medicine Open2949-77442024-01-012101364P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a familyKanika Parashar0Kristen Wigby1Annette Feigenbaum2Miguel Del Campo3UCSDUC DavisUCSDUCSDhttp://www.sciencedirect.com/science/article/pii/S2949774424005107 |
| spellingShingle | Kanika Parashar Kristen Wigby Annette Feigenbaum Miguel Del Campo P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family Genetics in Medicine Open |
| title | P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family |
| title_full | P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family |
| title_fullStr | P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family |
| title_full_unstemmed | P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family |
| title_short | P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family |
| title_sort | p470 a novel inherited frameshifting variant in uba2 gene a case study of highly variable phenotype in a family |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424005107 |
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