Evidence map›Paper›PMID 37628781›Full record

ArticleInternational journal of molecular sciences2023

A Novel Genetic Variant in

Mariana Martins, Ana Rafaela Oliveira, Solange Martins, José Pedro Vieira, Pedro Perdigão, Ana Rita Fernandes, Luís Pereira de Almeida, Paulo Jorge Palma, Diana Bela Sequeira, João Miguel Marques Santos and 5 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
2.2field-weighted citation impact, top 11% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. The Primary Cilia are Associated with the Axon Initial Segment in Neurons.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Article
  4. 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

15 authors at 3 institutions in 1 country.

Mariana MartinsCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.
Ana Rafaela OliveiraCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.
Solange MartinsCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.
José Pedro VieiraNeuropediatrics Unit, Central Lisbon Hospital Center, 1169-045 Lisbon, Portugal.ORCID 0000-0002-2270-5314
Pedro PerdigãoCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.
Ana Rita FernandesCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.
Luís Pereira de AlmeidaCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.ORCID 0000-0001-5831-3307
Paulo Jorge PalmaInstitute of Endodontics, Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.ORCID 0000-0003-4730-8072
Diana Bela SequeiraInstitute of Endodontics, Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.ORCID 0000-0001-6968-7611
João Miguel Marques SantosInstitute of Endodontics, Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.ORCID 0000-0002-2865-9689
Frederico DuqueUniversity Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, 3000-602 Coimbra, Portugal.
Guiomar OliveiraUniversity Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, 3000-602 Coimbra, Portugal.
Ana Luísa CardosoCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.ORCID 0000-0001-5145-4561
João PeçaCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.ORCID 0000-0003-4989-2129
Catarina Morais SeabraCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.ORCID 0000-0003-2862-1979
University of Coimbra · PTHospitais da Universidade de Coimbra · PTUnidade Local de Saúde de São José · PT

Funding

Fundação para a Ciência e Tecnologia EXPL/MED-OUT/1470/2021
6 · The paper itself

Abstract

Disruptions in the

Indexed as

EpilepsyIntellectual DisabilityNeurodevelopmental DisordersChildCiliaDNA-Binding ProteinsHumansSeizuresDNA-Binding ProteinsMBD5 protein, humanepilepsyMBD5neural cell modelsneurodevelopmentprimary cilia

Identifiers

PMID37628781
PMCPMC10454663
OpenAlexW4385697640

What Socratic 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 Socratic graph.