ArticleGenes2024
Novel Splice-Altering Variants in the
Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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
2 citing papers in PubMed.
- First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an IrishGenes · 2026Article
- "Hypomorphic splice-site variants in the CHM gene: implications for patient selection and endpoint design in choroideremia gene therapy trials".Annals of medicine and surgery (2012) · 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
17 authors.
Funding
Abstract
backgroundAn estimated 10-15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants,
methodsNext-generation sequencing was employed to identify the candidate variants in
resultsMidigene functional analysis confirmed that both variants disrupted splicing. The
conclusionsThis study adds to the mutational spectrum of splicing defects implicated in retinal degenerations by identifying and characterising two novel variants in
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Registered trials
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