ArticleGenes2017
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.
Article in Genes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
9 citing papers in PubMed, 17 citations in OpenAlex.
- RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.European journal of human genetics : EJHG · 2025Review
- Functional impact of splicing variants in the elaboration of complex traits in cattle.Nature communications · 2025Article
- Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.Human genomics · 2025Review
- Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.Human genomics · 2024Article
- Crosstalk between KIF1C and PRKAR1A in left atrial myxoma.Communications biology · 2023Article
- Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay.Scientific reports · 2023Article
- Article
- The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Defective binding of SPINK1 variants is an uncommon mechanism for impaired trypsin inhibition in chronic pancreatitis.The Journal of biological chemistryArticle
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 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is increasingly appreciated that missense variants may not only alter protein structure and function but may also influence pre-mRNA splicing and/or mRNA stability. Here we explore this issue in the context of currently known
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.