Evidence map›Paper›PMID 42620875›Full record

ArticleHuman mutation2026

A Novel Splice Variant in the

Yujun Zhang, Huibing Liu, Ailan Yin, Siping Liu, Wanfei Huang, Yi Zhang, Bei Jia

Abstract readCase Reports
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. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. A Novel Splice Variant in theHuman mutation · 2026
    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

7 authors.

Yujun ZhangDepartment of Obstetrics and Gynaecology, Nanfang Hospital, Southern Medical University, Guangzhou, China, fimmu.com.ORCID https://orcid.org/0009-0005-5460-973X
Huibing LiuDepartment of Obstetrics and Gynaecology, Nanfang Hospital, Southern Medical University, Guangzhou, China, fimmu.com.
Ailan YinDepartment of Obstetrics and Gynaecology, Nanfang Hospital, Southern Medical University, Guangzhou, China, fimmu.com.
Siping LiuDepartment of Obstetrics and Gynaecology, Nanfang Hospital, Southern Medical University, Guangzhou, China, fimmu.com.
Wanfei HuangDepartment of Obstetrics and Gynaecology, Nanfang Hospital, Southern Medical University, Guangzhou, China, fimmu.com.
Yi ZhangDepartment of Obstetrics and Gynaecology, Nanfang Hospital, Southern Medical University, Guangzhou, China, fimmu.com.ORCID https://orcid.org/0000-0002-7936-8777
Bei JiaDepartment of Obstetrics and Gynaecology, Nanfang Hospital, Southern Medical University, Guangzhou, China, fimmu.com.ORCID https://orcid.org/0000-0002-5406-0506

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Osteogenesis imperfecta (OI) is a clinical and genetic disorder characterised by bone fragility, growth deficiency and skeletal deformity. Ninety per cent of OI cases are attributable to autosomal dominant variants in the Methods: Candidate variants were identified and verified through trio whole-exome sequencing (trio-WES), copy number variation sequencing (CNV-seq) and Sanger sequencing. Minigene splicing assays were performed in HeLa and HEK293T cells with pcDNA3.1 and pcMINI-C vectors to investigate the function of the candidate variants. A systematic review of Results: Trio-WES revealed a novel heterozygous variant in the C-terminal region of the Conclusions: This intron variant in

Indexed as

Collagen Type IExonsOsteogenesis ImperfectaRNA SplicingAdultAlternative SplicingCollagen Type I, alpha 1 ChainDNA Copy Number VariationsExome SequencingFemaleGenetic Association StudiesHEK293 CellsHeLa CellsHumansMutationPhenotypeCOL1A1 protein, humanCollagen Type ICollagen Type I, alpha 1 ChainCol1a1 genec-terminal regionminigene splicing assaysosteogenesis imperfectasplice variantswhole-exome sequencing

Identifiers

PMID42620875
PMCPMC13486967

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.