ArticleFrontiers in genetics2025
A novel frameshift variant of
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by congenital sensorineural hearing loss and facial dysmorphisms. Methods and Results: Whole-exome and Sanger sequencing were used to identify causative variants, followed by bioinformatic analyses to predict pathogenicity. Auditory and speech rehabilitation were evaluated over a 7-year follow-up. A novel heterozygous frameshift mutation in PAX3 (c.788dup, p.Gln264ThrfsTer5) was identified and confirmed to be Discussion: This study expands the mutation spectrum of PAX3 and provides evidence supporting the pathogenicity of the c.788dup variant. It also confirms the long-term benefit of cochlear implantation and rehabilitation in WS1-related hearing loss.
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.