ArticleJournal of ophthalmology2020
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Article in Journal of ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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.
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
5 citing papers in PubMed.
- Mutation screening of γ-crystallin gene in congenital cataract patients from North India.Indian journal of ophthalmology · 2026Article
- D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter.Cell biochemistry and biophysics · 2023Article
- Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Orphanet journal of rare diseases · 2023Article
- Multimorbidity due to novel pathogenic variants in theBMJ open ophthalmology · 2023Article
- A mutatedInternational journal of ophthalmology · 2021Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo screen out pathogenic genes in a Chinese family with congenital cataract and iris coloboma.
resultsThe candidate genes of cataract and iris coloboma were successfully screened out. A heterozygote mutation,
conclusionsWe report a novel mutation,
Identifiers
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Registered trials
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