Evidence map›Paper›PMID 38111929›Full record

ArticleInternational journal of ophthalmology2023

Shuang Zhang, Hai-Ming Yong, Gang Zou, Mei-Jiao Ma, Xue Rui, Shang-Ying Yang, Xun-Lun Sheng

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
–field-weighted citation impact, top 75% 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, 0 citations in OpenAlex.

  1. 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 at 2 institutions in 1 country.

Shuang ZhangPeople's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Ningxia Eye Hospital, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, Ningxia Hui Autonomous Region, China.
Hai-Ming YongPeople's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Ningxia Eye Hospital, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, Ningxia Hui Autonomous Region, China.
Gang ZouPeople's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Ningxia Eye Hospital, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, Ningxia Hui Autonomous Region, China.
Mei-Jiao MaPeople's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Ningxia Eye Hospital, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, Ningxia Hui Autonomous Region, China.
Xue RuiPeople's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Ningxia Eye Hospital, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, Ningxia Hui Autonomous Region, China.
Shang-Ying YangPeople's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Ningxia Eye Hospital, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, Ningxia Hui Autonomous Region, China.
Xun-Lun ShengPeople's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, Ningxia Eye Hospital, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750001, Ningxia Hui Autonomous Region, China.
The Fourth People's Hospital of Ningxia Hui Autonomous Region · CNNingxia Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32.

methodsA family with familial exudative vitreoretinopathy (FEVR) phenotype was included in the study. Whole-exome sequencing (WES) was initially used to locate copy number variations (CNVs) on 7q31.31-31.32, but failed to detect the precise breakpoint. The long-read sequencing, Oxford Nanopore sequencing Technology (ONT) was used to get the accurate breakpoint which is verified by quantitative real-time polymerase chain reaction (QPCR) and Sanger Sequencing.

resultsThe proband, along with her father and younger brother, were found to have a heterozygous 4.5 Mb CNV deletion located on 7q31.31-31.32, which included the FEVR-related gene

conclusionThe heterozygous CNV deletion located on 7q31.31-7q31.32 is associated with the FEVR phenotype. The use of long-read sequencing techniques is essential for accurate molecular diagnosis of genetic disorders.

Indexed as

copy number deletioncopy number variationfamilial exudative vitreoretinopathylong-read sequencingTSPAN12

Identifiers

PMID38111929
PMCPMC10700080
OpenAlexW4388960024

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.