Evidence map›Paper›PMID 41010022›Full record

ReviewGenes2025

Novel

Karin Writzl, Maruša Škrjanec Pušenjak, Matevž Jus, Aleš Maver, Nuška Pečarič Meglič, Borut Peterlin, Lea Leonardis

Abstract readCase ReportsReview
In one paragraph

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

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

7 authors.

Karin WritzlClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0000-0003-0388-5361
Maruša Škrjanec PušenjakClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Matevž JusClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0009-0008-3311-8271
Aleš MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Nuška Pečarič MegličClinical Institute of Radiology, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Borut PeterlinClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0000-0001-7824-4978
Lea LeonardisInstitute of Clinical Neurophysiology, Division of Neurology, University Medical Center Ljubljana, 1525 Ljubljana, Slovenia.ORCID 0000-0002-7522-5293

Funding

the Republic of Slovenia Research Agency No. P3-0338, J3-9280, V3-2359 and P3-0326.
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Copper-Transporting ATPasesCutis LaxaEhlers-Danlos SyndromeAdultHumansMaleMutationPedigreePhenotypeRNA Splice SitesSiblingsATP7A protein, humanCopper-Transporting ATPasesRNA Splice SitesATP7Acopper metabolismdistal hereditary motor neuropathyneurogeneticsoccipital horn syndromesplice-site variant

Identifiers

PMID41010022
PMCPMC12469850

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 OpenQuestion graph.