Evidence map›Paper›PMID 38002933›Full record

ReviewGenes2023

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Marisa Encarnação, Isaura Ribeiro, Hugo David, Maria Francisca Coutinho, Dulce Quelhas, Sandra Alves

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

Review in Genes, 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
0.9field-weighted citation impact, top 26% 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, 5 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. 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

6 authors at 1 institution in 1 country.

Marisa EncarnaçãoResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, INSA I.P., Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.ORCID 0000-0002-3726-2851
Isaura RibeiroLaboratório de Bioquímica Genética, Serviço de Genética Laboratorial, Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar e Universitário de Santo António (CHUdSA), 4099-001 Porto, Portugal.ORCID 0000-0003-1067-8248
Hugo DavidResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, INSA I.P., Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.ORCID 0000-0002-9623-4017
Maria Francisca CoutinhoResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, INSA I.P., Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.ORCID 0000-0002-2222-3622
Dulce QuelhasLaboratório de Bioquímica Genética, Serviço de Genética Laboratorial, Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar e Universitário de Santo António (CHUdSA), 4099-001 Porto, Portugal.
Sandra AlvesResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, INSA I.P., Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.ORCID 0000-0002-8881-9197
Universidade do Porto · PT

Funding

Fundação para a Ciência e Tecnologia EXPL/BTM-TEC/1477/2021
6 · The paper itself

Abstract

Niemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the

Indexed as

Niemann-Pick Disease, Type CCarrier ProteinsDNA, ComplementaryHumansPhenotypeRNA SplicingCarrier ProteinsDNA, Complementaryleaky variantsmolecular diagnosisNiemann–Pick type CNPC1 genesplicing variants

Identifiers

PMID38002933
PMCPMC10671040
OpenAlexW4388269510

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.