The identification of novel missense variant in

Oluwafemi G Oluwole, Afolake Arowolo, Ezekiel Musa, Naomi Levitt, Mushi Matjila

Abstract read

In one paragraph

Article in Open medicine (Warsaw, Poland), 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

5 authors.

Oluwafemi G OluwoleDivision of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, PMB 7700, Observatory, Cape Town, South Africa.

Afolake ArowoloBiomedical Research and Innovation Platform (BRIP), South African Medical Research Council, Cape Town, South Africa.

Ezekiel MusaDepartment of Internal Medicine, Kaduna State University, Kaduna, Nigeria.

Naomi LevittDepartment of Medicine, University of Cape Town, Cape Town, South Africa.

Mushi MatjilaDepartment of Obstetrics and Gynaecology, University of Cape Town, Cape Town, South Africa.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Gestational diabetes mellitus (GDM), the most common metabolic complication of pregnancy, is associated with a 50% increase in subsequent risk for type 2 diabetes. There is increasing interest in identifying biomarkers that may facilitate the stratification of subsequent type 2 diabetes risk among women with GDM. In this study, we considered the choline acetyltransferase ( Methods: We screened for deleterious variants in the Results: A novel heterozygous missense variant in exon 8 of the Conclusion: Taken together, the metric scores for this variant show that it could affect the functions of the gene, but more functional studies are necessary to validate these effects. Consequently, this study sets the stage for the future screening of a larger cohort and functional validation of deleterious variants to underpin the

Indexed as

ChATcholinegenotypegestational diabetes mellitusplacentavariants

Identifiers

PMID40688037

DOI10.1515/med-2025-1225

PMCPMC12273656

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.