Evidence map›Paper›PMID 42787793›Full record

ArticleHuman mutation2026

Emma S Singer, Serena Li, Ginell N Ranpura, Seakcheng Lim, Sean Lal, Adam M Bournazos, Sandra T Cooper, Zachary Laksman, Richard D Bagnall

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. 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

9 authors.

Emma S SingerBioinformatics and Molecular Genetics Group at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0003-0264-3395
Serena LiFaculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0002-8777-1208
Ginell N RanpuraFaculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0001-8331-4547
Seakcheng LimFaculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0002-5288-4878
Sean LalFaculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0002-5841-560X
Adam M BournazosFaculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0002-6464-4548
Sandra T CooperFaculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0002-7314-5097
Zachary LaksmanCentre for Heart Lung Innovation, University of British Columbia, Vancouver, Canada, ubc.ca.
Richard D BagnallBioinformatics and Molecular Genetics Group at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0002-2476-9864

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Variants affecting minor (U12-type) intron splice sites are underreported, and their consequences are poorly understood, which makes predicting their pathogenicity challenging. We investigated the impact on splicing of an

Indexed as

Arrhythmias, CardiacIntronsNAV1.5 Voltage-Gated Sodium ChannelRNA SplicingAlternative SplicingBrugada SyndromeExonsFemaleHumansInduced Pluripotent Stem CellsMutationMyocytes, CardiacPedigreePhenotypeRNA Splice SitesNAV1.5 Voltage-Gated Sodium ChannelRNA Splice SitesSCN5A protein, humanBrugada syndromegenetic heart diseaseinduced pluripotent stem cellsminor intronsRNA splicing

Identifiers

PMID42787793
PMCPMC13602164

What OpenQuestion holds

Textmetadata
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.