Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
20 authors.
Lenka Steiner MrázováResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0003-4347-7768
Alena VrbackáResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0003-4640-1646
Filip MajerResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0002-3549-6312
Viktor StráneckýResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0002-2599-6479
Lenka NoskováResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0001-7011-4327
Daniela ZáhorákováDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0001-6192-1274
Jitka MájovskáDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.
Ibrahim BitarDepartment of Microbiology, Faculty of Medicine and University Hospital Pilsen, Charles University, Pilsen, Czech Republic, cuni.cz.
Jiří KlempířDepartment of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0002-0735-7155
Jana ŠaligováDepartment of Paediatrics and Adolescent Medicine, Faculty of Medicine, P. J. Šafárik University and Children's Faculty Hospital Košice, Košice, Slovakia.ORCID https://orcid.org/0000-0003-2383-7447
Stella MajlingováDepartment of Paediatrics and Adolescent Medicine, Faculty of Medicine, P. J. Šafárik University and Children's Faculty Hospital Košice, Košice, Slovakia.
Petra DrenčákováOutpatient Clinic of Medical Genetics, Unilabs, Košice, Slovakia, unilabs.pt.
Denisa HarvanováAssociated Tissue Bank, Faculty of Medicine, P.J. Šafárik University and L. Pasteur University Hospital in Košice, Košice, Slovakia.
Pavla SolařováDepartment of Medical Genetics, University Hospital Hradec Králové, Hradec Králové-Nový, Czech Republic, fnhk.cz.
Radan Brůha4th Department of Internal Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0001-9924-4301
Petr DušekDepartment of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0003-4877-9642
Stanislav KmochResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.
Jakub SikoraResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0003-4104-2023
Ivana JedličkováResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.ORCID https://orcid.org/0000-0002-3362-0834
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by bi-allelic pathogenic variants in the ATPase copper transporting beta gene (
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.