Evidence map›Paper›PMID 39063141›Full record

ArticleInternational journal of molecular sciences2024

Expanding the Phenotypic Spectrum of Pathogenic

Desirée Deconte, Bruna Lixinski Diniz, Jéssica K Hartmann, Mateus A de Souza, Laira F F Zottis, Paulo Ricardo Gazzola Zen, Rafael F M Rosa, Marilu Fiegenbaum

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

Article in International journal of molecular sciences, 2024. 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. 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

8 authors.

Desirée DecontePrograma de Pós-Graduação em Patologia, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.
Bruna Lixinski DinizPrograma de Pós-Graduação em Patologia, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.ORCID 0000-0003-1448-0298
Jéssica K HartmannFaculty of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.
Mateus A de SouzaFaculty of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.
Laira F F ZottisFaculty of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.
Paulo Ricardo Gazzola ZenDepartamento de Clínica Médica, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.ORCID 0000-0002-7628-4877
Rafael F M RosaDepartamento de Clínica Médica, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.
Marilu FiegenbaumDepartamento de Ciências Básicas da Saúde, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.ORCID 0000-0002-5408-2078

Funding

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior 001
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Abnormalities, MultipleCerebellumEye AbnormalitiesKidney Diseases, CysticPhenotypeRetinaCell Cycle ProteinsCiliopathiesFemaleHumansMaleMutationCell Cycle ProteinsKIAA0586 protein, humanciliopathieshydrolethalus syndromeinheritanceKIAA0586pathogenic variantvariable expressivity

Identifiers

PMID39063141
PMCPMC11277298

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.