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Common and rare variants in patients with early onset drusen maculopathy
Early onset drusen maculopathy (EODM) can lead to advanced macular degeneration at a young age, affecting quality of life. However, the genetic causes of EODM are not well studied. We performed whole genome sequencing in 49 EODM patients. Common genetic variants were analysed by calculating genetic...
Autores principales: | de Breuk, Anita, Lechanteur, Yara T. E., Astuti, Galuh, Galbany, Jordi Corominas, Klaver, Caroline C. W., Hoyng, Carel B., den Hollander, Anneke I. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825904/ https://www.ncbi.nlm.nih.gov/pubmed/36053979 http://dx.doi.org/10.1111/cge.14212 |
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