Evidence map›Paper›PMID 28149769›Full record

ArticleInternational journal of ophthalmology2017

A novel splice site mutation of

Meng-Han Wu, Yin-Hui Yu, Qin-Long Hao, Xiao-Hua Gong, Ke Yao

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

Article in International journal of ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.1field-weighted citation impact, top 51% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026
    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 3 institutions in 2 countries.

Meng-Han WuDepartment of Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China; Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou 310009, Zhejiang Province, China.
Yin-Hui YuDepartment of Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China; Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou 310009, Zhejiang Province, China.
Qin-Long HaoInstitute of Translational, Medicine Zhejiang University, Hangzhou 310029, Zhejiang Province, China.
Xiao-Hua GongSchool of Optometry and Vision Science Program, University of California, Berkeley 94710, California, USA.
Ke YaoDepartment of Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China; Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou 310009, Zhejiang Province, China.
Second Affiliated Hospital of Zhejiang University · CNUniversity of California, Berkeley · USZhejiang University · CN

Funding

Cataracts, Connexin Mutants and Genetic ModifiersR01EY013849 · NEI · UNIVERSITY OF CALIFORNIA BERKELEY · PI Xiaohua Gong · 2002 to 2026
$8.2M
NEI NIH HHS R01 EY013849
6 · The paper itself

Abstract

aimTo identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family.

methodsThe study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract (ADCC). Family history and the history of cataract extraction were recorded. Blood samples were collected from individuals for DNA extraction. Direct sequencing of congenital cataract-associated genes was performed. Single-strand conformational polymorphism and bioinformatic analysis were conducted to further study the mutation.

resultsDirect sequencing revealed a novel splice site mutation of c.30-2 A>G in the

conclusionc.30-2 A>G mutation of

Indexed as

congenital cataractCRYBA3/A1 genesplice site mutation

Identifiers

PMID28149769
PMCPMC5225341
OpenAlexW2587086087

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.