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 |
| ISSN: | 2949-7744 |
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