ArticleInternational journal of ophthalmology2018
Novel mutations in
Article in International journal of ophthalmology, 2018. 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, 14 citations in OpenAlex.
- Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.BMC medical genomics · 2025Article
- Prenatal Ultrasound Diagnosis and Prognosis Analysis of Fetal Congenital Cataract.International journal of women's health · 2025Article
- Article
- Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.International ophthalmology · 2023Article
- D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter.Cell biochemistry and biophysics · 2023Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo summarize the phenotypes and identify the underlying genetic cause of the
methodsDetailed family histories and clinical data were collected from patients during an ophthalmologic examination. Of 523 inheritable genetic vision system-related genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. The possible functional impacts of an amino acid substitution were performed with PolyPhen-2 and SIFT predictions.
resultsThe patients in the two families were affected with congenital cataract. Sixty-five (FAMILY-1) and sixty-two (FAMILY-2) single-nucleotide polymorphisms and indels were selected by recommended filtering criteria. Segregation was then analyzed by applying Sanger sequencing with the family members. A heterozygous
conclusionThe
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Identifiers
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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.