ArticleMolecular vision2018
Variants in the
Article in Molecular vision, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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.
Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort.Turkish journal of medical sciences · 2025Article
- Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.Molecular genetics and genomics : MGG · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- The Role of the Choroid in Stargardt Disease.International journal of molecular sciences · 2022Review
- Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.Acta ophthalmologica · 2022Article
- Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.Bioscience reports · 2021Article
- Updating the Genetic Landscape of Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Article
- Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.Frontiers in genetics · 2021Article
- Molecular Analysis of theInternational journal of molecular sciences · 2020Article
- Monitoring and Management of the Patient with Stargardt Disease.Clinical optometry · 2019Review
- Mutation Screening of Six Exons ofJournal of ophthalmic & vision researchArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The aim of this study was to analyze and report pathogenic variants in the Methods: This retrospective study evaluated variants in the Results: Fifty patients aged between 10 and 65 years from 44 families were included in the study. Among these cases, the mean age of symptom onset was 14 years (range, 5-40 years). Conclusions: Next-generation sequencing was effective for the molecular diagnosis of genetic diseases and specifically allowed a conclusive diagnosis in 80% (40/50) of the patients. As the
Indexed as
Identifiers
30093795PMC6070459W2908353535What OpenQuestion holds
Registered trials
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.