ArticleThe British journal of ophthalmology2021
Novel p.G1344E mutation in
Article in The British journal of ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.Journal of human genetics · 2025Article
- Clinical characteristics and diagnostic test for spherophakia: A retrospective analysis.Heliyon · 2024Article
- Genetic mutation and aqueous humor metabolites alterations in a family with Marfan syndrome.Heliyon · 2024Article
- Clinical and genetic findings in Chinese families with congenital ectopia lentis.Molecular genetics & genomic medicine · 2023Article
- De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.Investigative ophthalmology & visual science · 2023Article
- CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEctopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by
methodsEight family members, including four patients with suspected isolated ectopia lentis, were recruited from Shanghai. Clinical data and family history of the proband and other affected family members were collected. Ophthalmic examination, systemic examination and echocardiography were performed. Whole exome sequencing and Sanger sequencing were used to detect potential pathogenic variants.
resultsA novel heterozygous missense mutation c.4031 G>A/p.Gly1344Glu in exon 33 of
conclusionThe novel c.4031G>A mutation in
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.