ReviewNature genetics2026
Small nuclear RNA genes in Mendelian disorders.
Review in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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
3 citing papers in PubMed.
- Mechanisms underlying disease-causing variants in promoters and enhancers.Nature genetics · 2026Review
- Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.iScience · 2026Article
- Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.HGG advances · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Small nuclear RNA (snRNA) genes represent a class of non-protein-coding genes involved in the processing of pre-mRNAs of intron-containing genes. The human genome contains approximately 2,000 snRNA genes; the majority are pseudogenes, and only a small fraction are functional. These snRNAs undergo extensive post-transcriptional modifications, and, together with proteins and other snRNAs, form small nuclear ribonucleoproteins, which are components of the spliceosome. This Review discusses high-impact variants in 12 snRNA genes that cause Mendelian disorders with either autosomal dominant or recessive inheritance patterns. The associated phenotypes include mainly neurodevelopmental delay, developmental abnormalities and retinitis pigmentosa. The presumed consequences of these variants are presented on the basis of previous functional characterization of the corresponding snRNAs. It is anticipated that the understanding of both Mendelian and complex traits due to snRNAs will increase the diagnostic potential, partially explain penetrance and provide more therapeutic options.
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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.