ArticleMolecular vision2021
Heterozygous deletions of noncoding parts of the
Article in Molecular vision, 2021. 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
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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.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025Review
- Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The RNA content of extracellular vesicles from gene-editedMolecular therapy. Methods & clinical development · 2025Article
- Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.Genome medicine · 2024Article
- PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation.Vision research · 2023Review
- Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.Molecular genetics & genomic medicine · 2023Article
- Article
- An effect of large-scale deletions and duplications on transcript expression.Functional & integrative genomics · 2022Article
- A 69 kb Deletion in chr19q13.42 includingJournal of clinical medicine · 2022Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Heterozygous mutations in the gene Methods: All patients underwent thorough ophthalmological examination, including electroretinography (ERG) and Goldmann perimetry. Array-based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) were used to map heterozygous deletions, while real-time PCR on genomic DNA and long-range PCR allowed resolving the mutations at the base-pair level. Results: We identified two independent deletions affecting the promoter and the 5' untranslated region (UTR) of Conclusions: In addition to reporting the identification of two novel noncoding deletions in
Indexed as
Identifiers
33907366PMC8056469W2916321010What 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.