ArticleGenes2018
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
Article in Genes, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 29 citations in OpenAlex.
- Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease.Italian journal of pediatrics · 2025Article
- Comprehensive Splice Pattern Analysis for Previously ReportedKidney international reports · 2025Article
- Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.Current issues in molecular biology · 2024Article
- A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease.Cell communication and signaling : CCS · 2023Article
- Characterization of pre-mRNA Splicing Defects Caused byBiomedicines · 2023Article
- Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.BMC genomics · 2023Article
- Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.Molecular genetics & genomic medicine · 2023Article
- A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test.CEN case reports · 2022Article
- Twelve exonic variants in theFrontiers in genetics · 2022Article
- Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.Archives of osteoporosis · 2021Article
- A NovelJournal of pediatric genetics · 2019Article
- Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome.Intractable & rare diseases research · 2019Article
- Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.BMC medical genetics · 2019Article
- Novel mutation inInternational journal of ophthalmology · 2019Article
- Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant inFrontiers in endocrinology · 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
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the
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.