Evidence map›Paper›PMID 32952948›Full record

ArticleIranian journal of basic medical sciences2020

A pathogenic variant in the transforming growth factor beta I (

Aliasgar Mohammadi, Azam Ahmadi Shadmehri, Mahnaz Taghavi, Gholamhossein Yaghoobi, Mohammad Reza Pourreza, Mohammad Amin Tabatabaiefar

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

Article in Iranian journal of basic medical sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 39% 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, 2 citations in OpenAlex.

  1. Article
  2. 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

6 authors at 2 institutions in 1 country.

Aliasgar MohammadiDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Azam Ahmadi ShadmehriDepartment of Genetics, Islamic Azad University, Science and Research Branch, Tehran, Iran.
Mahnaz TaghaviZeiss Ophthalmology Clinic, Tabas, South Khorasan, Iran.
Gholamhossein YaghoobiDepartment of Ophthalmology, Birjand University of Medical Science, South Khorasan, Iran.
Mohammad Reza PourrezaDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Mohammad Amin TabatabaiefarDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Isfahan University of Medical Sciences · IRIslamic Azad University, Science and Research Branch · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesGranular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging. MATERIALS AND

methodsPatients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was used for mutation detection. Co-segregation and

resultsPatients suffered from GCD. NGS disclosed a known pathogenic variant, c.371G>A (p.R124H), in exon 4 of

conclusionThe results, in accordance with previous studies, indicate that the c.371G>A in TGFBI is associated with GCD. Some phenotypic variations are related to factors such as modifier genes, reduced penetrance and environmental effects.

Indexed as

Corneal dystrophyIranNext-generation sequencingPathogenic variantTGFBI

Identifiers

PMID32952948
PMCPMC7478261
OpenAlexW3049408534

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.