ArticleAmerican journal of ophthalmology case reports2020
Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.
Article in American journal of ophthalmology case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05537220 (NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa), which is not on this map. Cited by 6 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.
NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa
Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.Human genetics · 2025Article
- A Comparative Genomics Approach to Understanding the Evolution of Olfaction in Cetaceans.Journal of molecular evolution · 2024Article
- High-Quality Chromosome-Level Genome Assembly of the Corsac Fox (International journal of molecular sciences · 2023Article
- The Natural History ofInternational journal of molecular sciences · 2022Article
- Biochemistry and physiology of zebrafish photoreceptors.Pflugers Archiv : European journal of physiology · 2021Review
- CNGB1-related rod-cone dystrophy: A mutation review and update.Human mutation · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report a severe phenotype of retinitis pigmentosa associated with novel mutations in OBSERVATIONS: Six siblings, age range 50-75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing.In four affected siblings, two novel compound heterozygous variants in CONCLUSIONS AND IMPORTANCE: This is the first report of a 12bp in-frame duplication and a missense variant (in compound heterozygous status) in
Indexed as
Identifiers
What 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.