P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia
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| Main Authors: | Farrah Jackson, Jaime Lopes, Sarah Taylor, Laurelle Kinga-Bakienga, Anne Slavotinek, Kristin Theobald |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425013810 |
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