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Late adult-onset Wilson disease in ATP7B p.Met665Ile variant: further evidence for reduced penetrance and a hypomorphic effect

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Bibliographic Details
Main Authors: Niesert, Moritz (Author) , Köhrer, Sebastian (Author) , Fichtner, Alexander (Author) , Mohr, Isabelle (Author)
Format: Article (Journal)
Language:English
Published: 16 March 2026
In: American journal of medical genetics
Year: 2026, Pages: 1-2
ISSN:1552-4833
DOI:10.1002/ajmg.a.70144
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/ajmg.a.70144
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.70144
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Author Notes:Moritz Niesert, Sebastian Köhrer, Alexander Fichtner, Isabelle Mohr
Description
Item Description:Gesehen am 28.05.2026
Online verfügbar: 16. März 2026
Physical Description:Online Resource
ISSN:1552-4833
DOI:10.1002/ajmg.a.70144

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