ArticleMolecular vision2019
Identities and frequencies of variants in
Article in Molecular vision, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 22 citations in OpenAlex.
- Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.Human mutation · 2026Article
- A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.Molecular biology reports · 2025Article
- Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.Scientific reports · 2025Article
- Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.International journal of molecular sciences · 2025Article
- Identification and Potential Roles of Human MicroRNAs in Ebola Virus Infection and Disease Pathogenesis.Genes · 2024Article
- Revisiting Retinal Degeneration Hallmarks: Insights from Molecular Markers and Therapy Perspectives.International journal of molecular sciences · 2023Review
- Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.Scientific reports · 2022Article
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- Article
- Novel compound heterozygous mutations inMolecular medicine reports · 2021Article
- SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.Investigative ophthalmology & visual science · 2020Article
- Updates on the molecular genetics of primary congenital glaucoma (Review).Experimental and therapeutic medicine · 2020Review
- Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.PloS one · 2020Article
- Novel mutations inMolecular vision · 2020Article
- Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.Pakistan journal of medical sciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
Purpose: Primary congenital glaucoma (PCG) is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic causes of PCG segregating in 36 large consanguineous Pakistani families. Methods: Ophthalmic examination including fundoscopy, or slit-lamp microscopy was performed to clinically characterize the PCG phenotype. Genomic nucleotide sequences of the Results: Among the known loci, mutations in Conclusions: In conclusion, results of the present study enhance our understanding of the genetic basis of PCG, support the notion of a genetic modifier of
Indexed as
Identifiers
30820150PMC6386514W2953548240What 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.