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De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases
PURPOSE: The purpose of this study was to describe genotype-phenotype associations and novel insights into genetic characteristics in a trio-based cohort of inherited eye diseases (IEDs). METHODS: To determine the etiological role of de novo mutations (DNMs) and genetic profile in IEDs, we retrospec...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Association for Research in Vision and Ophthalmology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9907368/ https://www.ncbi.nlm.nih.gov/pubmed/36729443 http://dx.doi.org/10.1167/iovs.64.2.5 |