Evidence map›Paper›PMID 42650075›Full record

ArticleGenes2026

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

Carlotta Pia Cristalli, Maria Alessandra Schiavo, Miryam Rosa Stella Foti, Sara Calabrese, Federica Isidori, Alice Margutti, Pierluigi Laricchiuta, Giulia Governatori, Francesco Lai, Vera Uliana and 20 more

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

30 authors.

Carlotta Pia CristalliSSD Biologia e Medicina Molecolare, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0003-1428-8714
Maria Alessandra SchiavoCardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0009-0006-6644-9822
Miryam Rosa Stella FotiUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy.ORCID 0009-0002-0335-5862
Sara CalabreseMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0009-0004-0036-8240
Federica IsidoriMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0001-5934-3030
Alice MarguttiUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy.ORCID 0000-0002-2056-1660
Pierluigi LaricchiutaSSD Biologia e Medicina Molecolare, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Giulia GovernatoriMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Francesco LaiUnit of Cardiology, Bentivoglio Hospital, 40010 Bentivoglio, Italy.
Vera UlianaMedical Genetics, University Hospital of Parma, 43126 Parma, Italy.
Federico BarocelliUnit of Cardiology, University Hospital of Parma, 43126 Parma, Italy.ORCID 0000-0002-1412-4747
Elia De MariaCardiology Unit, Ramazzini Hospital, Carpi, 41012 Modena, Italy.ORCID 0000-0001-9211-0810
Alessandro FuciliCardiology Department, University Hospital S.Anna Ferrara, 44121 Ferrara, Italy.ORCID 0000-0002-1843-2923
Biagio SassoneCardiology Unit, SS.ma Annunziata Hospital, Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy.ORCID 0000-0002-9028-7169
Giulia ParmeggianiMedical Genetics Unit, Department of Clinical Pathology, AUSL Romagna, 48121 Cesena, Italy.
Enrica PeruginiCardiology Unit, Maggiore Hospital, 40138 Bologna, Italy.
Camilla LuccaLaboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
Francesca CappucciniLaboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
Laura PezzoliLaboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.ORCID 0000-0002-8111-563X
Maria IasconeLaboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.ORCID 0000-0002-4707-212X
Maria PianeSant'Andrea University Hospital, 00189 Rome, Italy.ORCID 0000-0001-8569-247X
Giovanni VitaleCardiology Unit, Ospedale Santa Maria Della Scaletta, 40026 Imola, Italy.
Claudio GrazianoMedical Genetics Unit, Department of Clinical Pathology, AUSL Romagna, 48121 Cesena, Italy.ORCID 0000-0003-3875-6869
Rita SelvaticiUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy.ORCID 0000-0002-3099-0100
Alessandra FerliniUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy.ORCID 0000-0001-8385-9870
Maddalena GraziosiCardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Elena BiaginiCardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Daniela TurchettiMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0002-6792-3921
Francesca GualandiUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy.ORCID 0000-0001-9551-057X
Cesare RossiSSD Biologia e Medicina Molecolare, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0003-1826-615X

Funding

Ministry of Health RC-2026-2801309
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Cardiomyopathy, HypertrophicCarrier ProteinsRNA Splice SitesAdultAgedFemaleFounder EffectHaplotypesHumansItalyMaleMiddle AgedMutationMyosin Binding Protein CCarrier ProteinsMyosin Binding Protein CRNA Splice Sitesfounder mutationhypertrophic cardiomyopathyMYBPC3

Identifiers

PMID42650075
PMCPMC13512870

What OpenQuestion holds

Textmetadata
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.