Evidence map›Paper›PMID 38957147›Full record

ArticleOphthalmic genetics2024

A novel frameshift variant in

Vanita Berry, Manav B Ponnekanti, Nikolas Pontikos, Roy A Quinlan, Michel Michaelides

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

Article in Ophthalmic genetics, 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

5 authors.

Vanita BerryUCL Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-6008-8970
Manav B PonnekantiUCL Medical School, University College London, London, UK.ORCID 0009-0001-9545-7489
Nikolas PontikosUCL Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-1782-4711
Roy A QuinlanDepartment of Biosciences, University of Durham, Durham, UK.ORCID 0000-0003-0644-4123
Michel MichaelidesUCL Institute of Ophthalmology, University College London, London, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBCL6 co-repressor (

methodsWhole-exome sequencing was conducted on an individual affected by X-linked dominant congenital cataract in a three-generation family to establish the underlying genetic basis. Bioinformatics analysis confirmed the variants with damaging pathogenicity scores.

resultsA novel likely pathogenic frameshift variant

conclusionsThis is apparently the first report of a variant in

Indexed as

CataractFrameshift MutationPedigreeProto-Oncogene ProteinsRepressor ProteinsExome SequencingFemaleHumansMaleBCOR protein, humanProto-Oncogene ProteinsRepressor ProteinsBCORWESX-linked dominant congenital nuclear cataract

Identifiers

PMID38957147
PMCPMC11614040

What OpenQuestion holds

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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.