ArticleFrontiers in immunology2026
Case Report: First report of a novel homozygous nonsense mutation in the
Article in Frontiers in immunology, 2026. 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
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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.
- PubMind: literature-based genetic variant extraction and functional annotation using large language models.Nature communications · 2026Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: To investigate the etiology of recurrent severe pneumonia and pleural effusion in a pediatric patient through pathogenic gene testing and bioinformatics analysis. Methods: Clinical characteristics and laboratory findings were retrospectively reviewed. Peripheral blood samples were collected from the patient and both parents. Genomic DNA was extracted and subjected to trio whole-exome sequencing (WES) using high-throughput sequencing technology. Sanger sequencing was used to validate suspected pathogenic variants. Results: Whole-exome sequencing revealed a homozygous variant c.427C>T (p.Q143*) in exon 6 of the Conclusion: This study identified a novel
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Registered trials
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