Evidence map›Paper›PMID 42059065›Full record

ArticleCirculation. Genomic and precision medicine2026

Novel Truncating Variant c.1222DupC in

Priyanka Pant, Yong Huang, Zakiya Ghouse, Fang Bai, Elena Kemmling, Laura Konrad, Ahmed Alameldeen, Rebecca Kistler, Timon Seeger, Michael Gotthardt and 2 more

Abstract readCase Reports
In one paragraph

Article in Circulation. Genomic and precision medicine, 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

12 authors.

Priyanka PantMedical Faculty Heidelberg, Institute of Experimental Cardiology, Heidelberg University, Germany (P.P., Z.G., E.K., L.K., M.M.G.v.d.H.).ORCID 0009-0003-3271-3259
Yong HuangStanford Centre for Inherited Cardiovascular Disease and Department of Medicine, Stanford School of Medicine, CA (Y.H., F.B., V.N.P.).ORCID 0009-0000-6727-4960
Zakiya GhouseMedical Faculty Heidelberg, Institute of Experimental Cardiology, Heidelberg University, Germany (P.P., Z.G., E.K., L.K., M.M.G.v.d.H.).
Fang BaiStanford Centre for Inherited Cardiovascular Disease and Department of Medicine, Stanford School of Medicine, CA (Y.H., F.B., V.N.P.).ORCID 0000-0003-0639-8104
Elena KemmlingMedical Faculty Heidelberg, Institute of Experimental Cardiology, Heidelberg University, Germany (P.P., Z.G., E.K., L.K., M.M.G.v.d.H.).ORCID 0009-0001-4952-306X
Laura KonradMedical Faculty Heidelberg, Institute of Experimental Cardiology, Heidelberg University, Germany (P.P., Z.G., E.K., L.K., M.M.G.v.d.H.).ORCID 0009-0008-4700-7433
Ahmed AlameldeenDepartment of Internal Medicine III (A.A., R.K., T.S.), Heidelberg University Hospital, Germany.ORCID 0000-0002-0026-7501
Rebecca KistlerDepartment of Internal Medicine III (A.A., R.K., T.S.), Heidelberg University Hospital, Germany.
Timon SeegerDepartment of Internal Medicine III (A.A., R.K., T.S.), Heidelberg University Hospital, Germany.
Michael GotthardtTranslational Cardiology and Functional Genomics, Max Delbrück Centre for Molecular Medicine, Germany (M.G.).ORCID 0000-0003-1788-3172
Victoria N ParikhStanford Centre for Inherited Cardiovascular Disease and Department of Medicine, Stanford School of Medicine, CA (Y.H., F.B., V.N.P.).ORCID 0000-0002-5138-5559
Maarten M G van den HoogenhofMedical Faculty Heidelberg, Institute of Experimental Cardiology, Heidelberg University, Germany (P.P., Z.G., E.K., L.K., M.M.G.v.d.H.).ORCID 0000-0003-2768-3457

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRBM20 (RNA binding motif protein 20) is a cardiac splicing factor responsible for the splicing of several cardiac genes such as titin (

methodsWe identified a patient with a novel

resultsWe describe a novel heterozygous truncating variant,

conclusionsTogether, these findings establish

Indexed as

Cardiomyopathy, DilatedHaploinsufficiencyRNA-Binding ProteinsAnimalsFemaleHEK293 CellsHumansInduced Pluripotent Stem CellsMaleMiceMyocytes, CardiacRatsRNA SplicingRBM20 protein, ratribonucleic acid binding motif protein 20, humanRNA-Binding Proteinscardiomyopathy, dilatedhuman geneticsinduced pluripotent stem cellsRNA splicing

Identifiers

PMID42059065
PMCPMC13489771

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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.