Evidence map›Paper›PMID 37680296›Full record

ArticleJournal of current ophthalmology

Identification of a Missense Mutation in

Mahla Asghari, Soheila Abedini, Melika Farshidianfar, Amir Tajbakhsh, Akbar Derakhshan, Alireza Pasdar

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of current ophthalmology. 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
–field-weighted citation impact
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.

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

6 authors.

Mahla AsghariDepartment of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Soheila AbediniDepartment of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Melika FarshidianfarDepartment of Medical Sciences, Islamic Azad University, Mashhad, Iran.
Amir TajbakhshDepartment of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Akbar DerakhshanDepartment of Ophthalmology, Mashhad University of Medical Sciences, Mashhad, Iran.
Alireza PasdarDepartment of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To identify the causative mutations of autosomal dominant (AD) congenital cataracts in a large Iranian family. Methods: The complete and accurate family history and clinical information of participants were collected. A total of 51 family members, including 22 affected and 29 unaffected individuals, were recruited in this study. We performed whole exome sequencing to reveal pathogenic mutation. We used amplification refractory mutation system polymerase chain reaction and Sanger sequencing techniques to confirm segregation in patients and also to rule it out in the healthy participants. Results: A known missense mutation, c.827C>T (S276F), in Conclusion: The missense mutation c. 827C>T in the

Indexed as

Autosomal dominantCongenital cataractGJA8Whole exome sequencing

Identifiers

PMID37680296
PMCPMC10481974

What OpenQuestion holds

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Registered trials

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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.