Evidence map›Paper›PMID 38927610›Full record

ArticleGenes2024

Presentation of Rare Phenotypes Associated with the

Elena S Merkuryeva, Tatiana V Markova, Vladimir M Kenis, Olga E Agranovich, Ivan M Dan, Yulia Y Kotalevskaya, Olga A Shchagina, Oxana P Ryzhkova, Sergei S Fomenko, Elena L Dadali and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Collagen IV in Gould syndrome and Alport syndrome.Nature reviews. Nephrology · 2025
    Review
  5. 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

11 authors.

Elena S MerkuryevaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0001-6902-253X
Tatiana V MarkovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-2672-6294
Vladimir M KenisThe Turner Scientific Research Institute for Children's Orthopedics, 196603 Saint Petersburg, Russia.ORCID 0000-0002-7651-8485
Olga E AgranovichThe Turner Scientific Research Institute for Children's Orthopedics, 196603 Saint Petersburg, Russia.
Ivan M DanThe National Medical Research Center of Traumatology and Orthopedics Named after N.N. Priorov, 127299 Moscow, Russia.
Yulia Y KotalevskayaVladimirsky Moscow Regional Research and Clinical Institute, 61/2, Schepkina St., 129110 Moscow, Russia.ORCID 0000-0001-8405-8223
Olga A ShchaginaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Oxana P RyzhkovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-1285-9093
Sergei S FomenkoGenoanalytica Laboratory, 119234 Moscow, Russia.
Elena L DadaliResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Sergey I KutsevResearch Centre for Medical Genetics, 115522 Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in the

Indexed as

ArthrogryposisOsteogenesis ImperfectaPhenotypeTacrolimus Binding ProteinsAdolescentAdultChildChild, PreschoolExome SequencingFemaleHumansInfantMaleMutationNervous System MalformationsPedigreeFKBP10 protein, humanTacrolimus Binding ProteinsarthrogryposisBruck syndromeFKBP10 genefracturesosteogenesis imperfecta

Identifiers

PMID38927610
PMCPMC11202786

What OpenQuestion holds

Textmetadata
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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.