Evidence map›Paper›PMID 39192890›Full record

ArticleFrontiers in genetics2024

Cases report: Mosaic structural variants of the

Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets and 7 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. The frequent variant A57F in theFrontiers in genetics · 2024
    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

17 authors.

Artem BorovikovResearch Centre for Medical Genetics, Moscow, Russia.
Andrey MarakhonovResearch Centre for Medical Genetics, Moscow, Russia.
Aysylu MurtazinaResearch Centre for Medical Genetics, Moscow, Russia.
Kseniya DavydenkoResearch Centre for Medical Genetics, Moscow, Russia.
Alexandra FilatovaResearch Centre for Medical Genetics, Moscow, Russia.
Nailya GaleevaResearch Centre for Medical Genetics, Moscow, Russia.
Varvara KadnikovaResearch Centre for Medical Genetics, Moscow, Russia.
Natalya OgorodovaResearch Centre for Medical Genetics, Moscow, Russia.
Daria GorodilovaResearch Centre for Medical Genetics, Moscow, Russia.
Ilya KanivetsGenomed, Moscow, Russia.
Denis PyankovGenomed, Moscow, Russia.
Konstantin ZherdevNational Medical Research Center of Children's Health, Moscow, Russia.
Aleksandr Petel'guzovNational Medical Research Center of Children's Health, Moscow, Russia.
Pavel ZubkovNational Medical Research Center of Children's Health, Moscow, Russia.
Alexander PolyakovResearch Centre for Medical Genetics, Moscow, Russia.
Olga ShchaginaResearch Centre for Medical Genetics, Moscow, Russia.
Mikhail SkoblovResearch Centre for Medical Genetics, Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the

Indexed as

exostosisEXT1EXT2genome sequencingmosaic deletionmultiple osteochondromas

Identifiers

PMID39192890
PMCPMC11347319

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.