Evidence map›Paper›PMID 41595494›Full record

ArticleGenes2026

Vera Hoving, Albertine E Donker, Roel J P Smeets, Bert P W J van den Heuvel, Saskia E M Schols, Dorine W Swinkels

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

6 authors.

Vera HovingDepartment of Hematology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-5036-8554
Albertine E DonkerRadboud Iron Expertise Center, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Roel J P SmeetsTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Bert P W J van den HeuvelTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Saskia E M ScholsDepartment of Hematology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-2423-2829
Dorine W SwinkelsRadboud Iron Expertise Center, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-1040-9446

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIron-refractory iron deficiency anemia (IRIDA) is a rare hereditary disorder caused by pathogenic variants in

methodsWe performed full-gene sequencing of

resultsSequencing identified 219 non-coding variants, of which 31 (14

conclusionsThis study highlights four candidate non-coding variants that may contribute to IRIDA expression in monoallelic subjects, offering new insights into its genetic basis. Functional validation is required to confirm their role in disease pathogenesis, refine genotype-phenotype correlations, and improve diagnostic accuracy in monoallelic IRIDA.

Indexed as

Anemia, Iron-DeficiencyMembrane ProteinsSerine EndopeptidasesAdolescentAdultAllelesChildExome SequencingFemaleHumansIronMaleMiddle AgedMultifactorial InheritanceMutationPedigreeIronMembrane ProteinsSerine EndopeptidasesTMPRSS6 protein, humanIRIDAmonoallelicnon-coding variantsTMPRSS6

Identifiers

PMID41595494
PMCPMC12841354

What OpenQuestion holds

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Registered trials

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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.