Evidence map›Paper›PMID 37854381›Full record

ArticleInternational journal of ophthalmology2023

A novel pathogenic splicing mutation of

Hui-Qin Wang, Pei-Kuan Cong, Tian He, Xiao-Feng Yu, Ya-Nan Huo

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of ophthalmology, 2023. 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
0.3field-weighted citation impact, top 36% of its field
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, 2 citations in OpenAlex.

  1. Review
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 at 2 institutions in 1 country.

Hui-Qin WangDepartment of Ophthalmology, the Second People's Hospital of Quzhou, Quzhou 324022, Zhejiang Province, China.
Pei-Kuan CongKey Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou 310024, Zhejiang Province, China.
Tian HeDepartment of Ophthalmology, Children's Hospital of Hangzhou, Hangzhou 310005, Zhejiang Province, China.
Xiao-Feng YuDepartment of Ophthalmology, the Second People's Hospital of Quzhou, Quzhou 324022, Zhejiang Province, China.
Ya-Nan HuoDepartment of Ophthalmology, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310020, Zhejiang Province, China.
Quzhou City People's Hospital · CNWestlake University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo report a novel splicing mutation in the

methodsComprehensive ophthalmic examinations including best corrected visual acuity, fundus photography, vision field, and pattern-visual evoked potential were performed to identify the disease phenotype of a six-year-old boy from the family (proband). Genomic DNA was extracted from peripheral blood of five available members of the pedigree. Whole-exome sequencing (WES), Sanger sequencing, and pSPL3-based exon trapping were used to investigate the aberrant splicing of

resultsThe proband was diagnosed as having retinitis pigmentosa (RP). He had severe symptoms with early onset. A novel splicing mutation, c.619+1G>C in

conclusionWe identify a novel splice donor site mutation causing aberrant splicing of

Indexed as

pSPL3 minigene assayretinitis pigmentosaRPGRsplicing mutationX-linked inheritance

Identifiers

PMID37854381
PMCPMC10559041
OpenAlexW4386922376

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.