P405: A new case of fucosidosis with a novel homozygous pathogenic variant and a 17.2 Mb region of homozygosity

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Bibliographic Details
Main Author: Hua Wang
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425013111
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