Evidence map›Paper›PMID 37107598›Full record

ArticleGenes2023

Description of a Cohort with a New Truncating

Natalia Fernández Suárez, María Teresa Viadero Ubierna, Jesús Garde Basas, María Esther Onecha de la Fuente, María Teresa Amigo Lanza, Gonzalo Martin Gorria, Adrián Rivas Pérez, Luis Ruiz Guerrero, Domingo González-Lamuño

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2023. 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
0.4field-weighted citation impact, top 36% of its field
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, 2 citations in OpenAlex.

  1. 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

9 authors at 2 institutions in 1 country.

Natalia Fernández SuárezPediatric Cardiology Division, Pediatric Department, "Marqués de Valdecilla" University Hospital, 39008 Santander, Spain.ORCID 0000-0002-3146-8621
María Teresa Viadero UbiernaPediatric Cardiology Division, Pediatric Department, "Marqués de Valdecilla" University Hospital, 39008 Santander, Spain.
Jesús Garde BasasPediatric Cardiology Division, Pediatric Department, "Marqués de Valdecilla" University Hospital, 39008 Santander, Spain.
María Esther Onecha de la FuenteCardiovascular Genetic Disease Division, Molecular Genetic Department, "Marqués de Valdecilla" University Hospital, 39008 Santander, Spain.ORCID 0000-0002-8631-3555
María Teresa Amigo LanzaPediatric Laboratory, Department of Medical and Surgical Sciences, Faculty of Medicine, University of Cantabria, 39011 Santander, Spain.
Gonzalo Martin GorriaFamilial Heart Disease Division, Cardioloy Department, "Marqués de Valdecilla" University Hospital, 39008 Santander, Spain.
Adrián Rivas PérezFamilial Heart Disease Division, Cardioloy Department, "Marqués de Valdecilla" University Hospital, 39008 Santander, Spain.
Luis Ruiz GuerreroFamilial Heart Disease Division, Cardioloy Department, "Marqués de Valdecilla" University Hospital, 39008 Santander, Spain.
Domingo González-LamuñoPediatric Laboratory, Department of Medical and Surgical Sciences, Faculty of Medicine, University of Cantabria, 39011 Santander, Spain.
Marqués de Valdecilla University Hospital · ESUniversidad de Cantabria · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informative families. Pathogenic variants in the sarcomeric gene

methodsWe describe the clinical characteristics of a new truncating

resultsOur cohort allows us to estimate the penetrance and prognosis of this variant. The penetrance of the disease increases with age, whereas 50% of males in our sample developed HCM by the age of 36 years old, and 50% of women developed the disease by the time they reached 48 years of age (

conclusionsThe p.Val931Glyfs*120 truncating variant in

Indexed as

Cardiomyopathy, HypertrophicCytoskeletal ProteinsDeath, SuddenFemaleHumansMalePenetrancePhenotypeSpainCytoskeletal Proteinsgenotype-phenotypehypertrophic cardiomyopathyMYBPC3sarcomeric gene variant

Identifiers

PMID37107598
PMCPMC10137663
OpenAlexW4362471550

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.