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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Bibliographic Details
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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