Evidence map›Paper›PMID 37372397›Full record

ArticleGenes2023

Case Report-An Inherited Loss-of-Function

René G Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes A Mayr

Open access · goldAbstract readCase Reports
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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

2 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. 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

5 authors at 2 institutions in 2 countries.

René G FeichtingerUniversity Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.ORCID 0000-0002-4215-8258
Martin PreiselUniversity Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
Karin BruggerUniversity Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
Saskia B WortmannUniversity Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.ORCID 0000-0002-1968-8103
Johannes A MayrUniversity Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.ORCID 0000-0001-6970-336X
Paracelsus Medical University · ATRadboud University Nijmegen · NL

Funding

Austrian Science Fund FWF I 4695
6 · The paper itself

Abstract

backgroundHeterozygous, large-scale deletions at 14q24.3-31.1 affecting the neurexin-3 gene have been associated with neurodevelopmental disorders such as autism. Both "de novo" occurrences and inheritance from a healthy parent suggest incomplete penetrance and expressivity, especially in autism spectrum disorder. DISCUSSION: This is the first detailed report of a loss-of-function variant in

Indexed as

Autism Spectrum DisorderAutistic DisorderNeurodevelopmental DisordersCausalityChild, PreschoolFemaleHumansPhenotypeProtein IsoformsProtein Isoformsautismneurodevelopmental disordernovel diseaseNRXN3

Identifiers

PMID37372397
PMCPMC10298052
OpenAlexW4379143993

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.