Evidence map›Paper›PMID 32201676›Full record

ArticleIntractable & rare diseases research2020

Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy.

Mina Zamani, Gholamreza Shariati, Tahereh Seifi, Alireza Sedaghat, Hamid Galehdari

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

Article in Intractable & rare diseases research, 2020. 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
0.1field-weighted citation impact, top 57% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

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

5 authors at 2 institutions in 1 country.

Mina ZamaniDepartment of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Gholamreza ShariatiDepartment of Genetics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Tahereh SeifiDepartment of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Alireza SedaghatHealth Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Hamid GalehdariDepartment of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Shahid Chamran University of Ahvaz · IRAhvaz Jundishapur University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole Exome Sequencing (WES) has been used increasingly in genetic determination of various known and unknown genetic disorders. Various genes are involved in the development of the vascular network of retina. Assessment of a collection of these genes could be provided by WES. Here we used WES for a patient suffering vitreoretinopathy to detect the disease causing variant. Sanger sequencing has been applied for variant verification and allelic segregation. After analysis of WES data we found a new variant c.1237T>G in the

Indexed as

autosomal recessiveexome sequencingFZD4vitreoretinopathy

Identifiers

PMID32201676
PMCPMC7062596
OpenAlexW3005249176

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.