Evidence map›Paper›PMID 40428297›Full record

ArticleGenes2025

Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta.

Varvara A Galkina, Tatyana A Vasilyeva, Inna S Tebieva, Zolina K Getoeva, Andrey V Marakhonov, Vitaly V Kadyshev, Sergey I Kutsev, Rena A Zinchenko

Abstract readCase Reports
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Varvara A GalkinaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Tatyana A VasilyevaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-6744-0567
Inna S TebievaNorth-Ossetian State Medical Academy, 362019 Vladikavkaz, Russia.
Zolina K GetoevaCenter for the Protection of Motherhood and Childhood in Sochi, 354057 Sochi, Russia.
Andrey V MarakhonovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Vitaly V KadyshevResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0001-7765-3307
Sergey I KutsevResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Rena A ZinchenkoResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-3586-3458

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Collagen Type IOsteogenesis ImperfectaAdolescentAdultChildChild, PreschoolCollagen Type I, alpha 1 ChainExome SequencingFemaleGenetic TestingHumansMaleMiddle AgedMutationPedigreeCOL1A1 protein, humanCollagen Type ICollagen Type I, alpha 1 Chainclinical polymorphismCOL1A1genetic heterogeneityosteogenesis imperfecta

Identifiers

PMID40428297
PMCPMC12111503

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.