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
Published inGenetics in Medicine Open Vol. 3; p. 103272
Main Author Wang, Hua
Format Journal Article
LanguageEnglish
Published Elsevier Inc 2025
Elsevier
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ISSN:2949-7744
2949-7744
DOI:10.1016/j.gimo.2025.103272