Evidence map›Paper›PMID 37107568›Full record

ArticleGenes2023

Exome Analysis Reveals Novel Missense and Deletion Variants in the

Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, Angela Elvira Covone

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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.6field-weighted citation impact, top 16% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. 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 1 institution in 1 country.

Rute Luísa Cabrita PintoLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0001-8192-5803
Silvia ViaggiLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-3732-9462
Edoardo CanaleInfantile Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Marina Martinez PoppleInfantile Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Valeria CapraMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Giuseppina ConteducaLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0003-4301-3576
Barbara TestaLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0003-3516-2379
Domenico CovielloLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0001-8440-865X
Angela Elvira CovoneLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Istituto Giannina Gaslini · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The

Indexed as

Abnormalities, MultipleEye AbnormalitiesKidney Diseases, CysticCerebellumChildCytoskeletal ProteinsExomeHumansInfantMutationRetinaCC2D2A protein, humanCytoskeletal ProteinsCC2D2Acompound heterozygousdeletionJoubert Syndromemissensepediatric

Identifiers

PMID37107568
PMCPMC10137517
OpenAlexW4361215031

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.