ArticleCase reports in genetics2017
Pathogenic Variant in
Article in Case reports in genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed, 16 citations in OpenAlex.
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.American journal of human genetics · 2026Article
- Multiscale characterization ofiScience · 2025Article
- ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited.Clinical parkinsonism & related disorders · 2025Article
- Exploring potential mechanistic aspects of "Biaoben acupoint" acupuncture for lumbar disc herniation using 4D proteomics.Frontiers in neurology · 2025Article
- Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.Journal of clinical medicine · 2024Review
- Dystonia-Deafness Syndrome:Movement disorders clinical practice · 2022Article
- Identification of blood-derived candidate gene markers and a new 7-gene diagnostic model for multiple sclerosis.Biological research · 2021Article
- Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.Journal of cutaneous pathology · 2020Article
- Could Dissimilar Phenotypic Effects ofMolecular syndromology · 2019Article
- Multilineage ACTB mutation in a patient with fibro-osseous maxillary lesion and pilocytic astrocytoma.American journal of medical genetics. Part A · 2018Article
- Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.Journal of neurodevelopmental disorders · 2018Article
- Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia.Annals of Indian Academy of NeurologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
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.