Clinical and Molecular Analysis of <i>ATP7B</i> Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
The <i>ATP7B</i> mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.
Authors
- Bassam M.S. Al-Musawi
- Ruqayah G.Y. Al-Obaidi
Institutions
- University of Baghdad (IQ)
- Baghdad Medical City (IQ)
Publication Details
- Journal
- Sultan Qaboos University medical journal
- Published
- 2025-12-25
- DOI
- https://doi.org/10.18295/2075-0528.2944
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00