Evidence map›Paper›PMID 40630904›Full record

ArticleFrontiers in cardiovascular medicine2025

Case Report: A heterozygous loss-of-function variant of the

Philipp Erhart, Nicola Dikow, Eva M C Schwaibold, Susanne Dihlmann, Caspar Grond-Ginsbach, Daniel Körfer, Christian P Schaaf, Sabrina Oeser, Katrin Hinderhofer, Dittmar Böckler and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in cardiovascular medicine, 2025. 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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
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

14 authors.

Philipp ErhartDepartment of Vascular and Endovascular Surgery, University Hospital Heidelberg, Heidelberg, Germany.
Nicola DikowInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Eva M C SchwaiboldInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Susanne DihlmannDepartment of Vascular and Endovascular Surgery, University Hospital Heidelberg, Heidelberg, Germany.
Caspar Grond-GinsbachDepartment of Vascular and Endovascular Surgery, University Hospital Heidelberg, Heidelberg, Germany.
Daniel KörferDepartment of Vascular and Endovascular Surgery, University Hospital Heidelberg, Heidelberg, Germany.
Christian P SchaafInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Sabrina OeserInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Katrin HinderhoferInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Dittmar BöcklerDepartment of Vascular and Endovascular Surgery, University Hospital Heidelberg, Heidelberg, Germany.
Jiarna R ZerellaMolecular Pathology Research Laboratory, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.
Hamish S ScottMolecular Pathology Research Laboratory, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.
Christopher N HahnMolecular Pathology Research Laboratory, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.
Felix MarbachInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The transcription factor Case presentation: This research work investigates the role of the Conclusion: Our report discusses the possibility that loss-of-function variants in

Indexed as

abdominal aortic aneurysmERGhaploinsufficiencyloss-of-function variantmultiple arterial aneurysms

Identifiers

PMID40630904
PMCPMC12235746

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.