ArticleClinical case reports2018
Extending the critical regions for mutations in the non-coding gene
Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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.
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.Orphanet journal of rare diseases · 2026Article
- Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.American journal of human genetics · 2025Article
- Case Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?Frontiers in immunology · 2025Article
- Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.Eye (London, England) · 2023Article
- Roifman syndrome: a description of further immunological and radiological features.BMJ case reports · 2022Article
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- Chromosomal instability by mutations in the novel minor spliceosome component CENATAC.The EMBO journal · 2021Article
- Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.PloS one · 2020Article
- New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.RNA (New York, N.Y.) · 2019Article
- Extending the critical regions for mutations in the non-coding geneClinical case reports · 2018Article
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding
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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.