Evidence map›Paper›PMID 38927634›Full record

ArticleGenes2024

Identification of a Novel Frameshift Variant in

Paulina Ocieczek, Ngozi Oluonye, Cécile Méjécase, Elena Schiff, Vijay Tailor, Mariya Moosajee

Abstract readCase Reports
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. 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

6 authors.

Paulina OcieczekMoorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.
Ngozi OluonyeMoorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.
Cécile MéjécaseUCL Institute of Ophthalmology, London EC1V 9EL, UK.ORCID 0000-0003-2532-4004
Elena SchiffMoorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.ORCID 0000-0002-9848-1302
Vijay TailorMoorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.ORCID 0000-0002-1254-3462
Mariya MoosajeeMoorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.ORCID 0000-0003-1688-5360

Funding

Wellcome TrustWellcome Trust 205174/Z/16/Z
6 · The paper itself

Abstract

Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The

Indexed as

Frameshift MutationMyogenic Regulatory Factor 5OphthalmoplegiaRibsChildFemaleHomozygoteHumansMalePedigreeSpineMYF5 protein, humanMyogenic Regulatory Factor 5external ophthalmoplegiaexternal ophthalmoplegia with vertebral and rib anomalies (EORVA)MYF5myogenic factor 5myogenic transcription factorsrib anomaliesscoliosis

Identifiers

PMID38927634
PMCPMC11202668

What OpenQuestion holds

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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.