Evidence map›Paper›PMID 34573377›Full record

ArticleGenes2021

A Novel Splicing Variant of

Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, Rodolfo Iuliano

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.2field-weighted citation impact, top 19% 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

7 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Familial Aggregation of a Novel Missense Variant ofChildren (Basel, Switzerland) · 2022
    Article
  6. Article
  7. A Novel Mutation c.3392G>T ofFrontiers in genetics · 2022
    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

10 authors at 5 institutions in 1 country.

Valentina BruniMedical Genetics Unit, Department of Health Sciences, University "Magna Graecia" of Catanzaro, 88100 Catanzaro, Italy.ORCID 0000-0002-4958-9536
Cristina Barbara SpoletiMedical Genetics Unit, Department of Health Sciences, University "Magna Graecia" of Catanzaro, 88100 Catanzaro, Italy.
Andrea La BarberaMedical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, 50121 Florence, Italy.ORCID 0000-0003-0606-8404
Vincenzo DattiloMedical Genetics Unit, Department of Health Sciences, University "Magna Graecia" of Catanzaro, 88100 Catanzaro, Italy.
Emma ColaoMedical Genetics Unit, Department of Health Sciences, University "Magna Graecia" of Catanzaro, 88100 Catanzaro, Italy.ORCID 0000-0001-5451-593X
Carmela VotinoFetal Medicine Unit, ASL Bari, 70012 Bari, Italy.
Emanuele BellacchioGenetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Nicola PerrottiMedical Genetics Unit, Department of Health Sciences, University "Magna Graecia" of Catanzaro, 88100 Catanzaro, Italy.
Sabrina GiglioUnit of Medical Genetics, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.ORCID 0000-0002-3954-326X
Rodolfo IulianoMedical Genetics Unit, Department of Health Sciences, University "Magna Graecia" of Catanzaro, 88100 Catanzaro, Italy.ORCID 0000-0002-8524-7402
Magna Graecia University · ITBambino Gesù Children's Hospital · ITUniversity of Bari Aldo Moro · ITUniversity of Cagliari · ITUniversity of Florence · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in

Indexed as

Abortion, EugenicAchondroplasiaAdultAlternative SplicingCollagen Type IIFemaleFetal DiseasesHumansImaging, Three-DimensionalItalyMutationPregnancyProtein IsoformsSequence DeletionUltrasonography, PrenatalCOL2A1 protein, humanCollagen Type IIProtein Isoformsachondrogenesis type IICOL2A1in-frame deletionminigene assayskeletal dysplasiasplicing variant

Identifiers

PMID34573377
PMCPMC8467821
OpenAlexW3201089656

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.