ArticleFrontiers in medicine2022
Presumed
Article in Frontiers in medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 14 citations in OpenAlex.
- Minigene-based splicing analysis uncovers pathogenic splice-altering effects of PAX2.BMC pediatrics · 2026Article
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.Nature communications · 2026Article
- Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants inClinical kidney journal · 2025Article
- Pathogenic synonymous variation of the COL4A3 gene causing Alport syndrome comorbid with IgA deposition in a toddler: a case report.BMC nephrology · 2025Article
- Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.European journal of human genetics : EJHG · 2025Article
- Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.Scientific reports · 2025Article
- The heterozygous mutationFrontiers in pediatrics · 2025Article
- Association of Genetically Predicted Skipping of COL4A4 Exon 27 with Hematuria and Albuminuria.Journal of the American Society of Nephrology : JASN · 2025Article
- The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.Clinical kidney journal · 2024Article
- Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.Orphanet journal of rare diseases · 2024Article
- Explaining Alport syndrome-lessons from the adult nephrology clinic.Journal of rare diseases (Berlin, Germany) · 2024Review
- Abnormal mRNA Splicing Effect ofKidney international reports · 2023Article
- A founderFrontiers in medicine · 2023Article
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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed Methods: Patients' clinical findings and genetic data were analysed retrospectively. An Results: Five unclassified Conclusions:
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.