ArticleMolecular syndromology2024
A Deeper Insight into
Article in Molecular syndromology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Redefining Alport syndrome in the era of genomic medicine: time for a unified, genotype-driven nomenclature.Pediatric nephrology (Berlin, Germany) · 2026Article
- Review
- A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review.Molecular biology reports · 2025Review
- Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.Scientific reports · 2025Article
- Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.BMC medical genomics · 2025Review
- Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children.European journal of medical research · 2025Article
- A NovelGenes · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Alport syndrome (AS) is an inherited, rare, progressive kidney disease that affects the eye and ear physiology. Pathogenic variants of Methods: Targeted next-generation sequencing of the Results: The incidence of AS variants in patients was found as 21.6%. 27 variants were identified as pathogenic/likely pathogenic, 28 as variant of uncertain significance, and 52 as benign/likely benign. We also found 31 novel variants (14 in Conclusion: Genetic testing is a crucial part for the diagnosis and management of AS. Studies on the genetic etiology of AS are limited for the Turkish population. We believe that this study will contribute to the literature and the clinical decision-making process of patients with AS and emphasize the importance of genetic counseling.
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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.