Late Adult‐Onset Wilson Disease in <scp>ATP7B</scp> p. <scp>Met665Ile</scp> Variant: Further Evidence for Reduced Penetrance and a Hypomorphic Effect

Due to ethical restrictions and personal data protection laws, individual patient data is not available.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2026-04-03
DOI
https://doi.org/10.1002/ajmg.a.70144
Primary Topic
Trace Elements in Health
Type
article
Field-Weighted Citation Impact
0.00
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article

Late Adult‐Onset Wilson Disease in ATP7B p. Met665Ile Variant: Further Evidence for Reduced Penetrance and a Hypomorphic Effect

Alexander Fichtner, Sebastian Köhrer, Moritz Niesert, Isabelle Mohr
American Journal of Medical Genetics Part A
Trace Elements in Health
article

Late Adult‐Onset Wilson Disease in ATP7B p. Met665Ile Variant: Further Evidence for Reduced Penetrance and a Hypomorphic Effect

Alexander Fichtner, Sebastian Köhrer, Moritz Niesert, Isabelle Mohr
article en

Abstract

Due to ethical restrictions and personal data protection laws, individual patient data is not available.

American Journal of Medical Genetics Part A
Heidelberg University (DE), University Hospital Heidelberg (DE), Heidelberg Engineering (Germany) (DE), Heidelberg University (US)
Reduced inequalities
Openalex Percentile: Top 24%
Trace Elements in Health
DOISourceOpenAlex
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