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Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
PURPOSE: To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing. METHODS: A panel containing 153 genes associated with congenital cataracts was designed. Genes were selected through reference to databases including the Human Gene Mutation...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612798/ https://www.ncbi.nlm.nih.gov/pubmed/34840822 http://dx.doi.org/10.1155/2021/3847409 |