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A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing
In the present era of evolving gene-based therapies for inherited retinal dystrophies (IRDs), it has become increasingly important to verify the genotype in every case, to identify all subjects eligible for treatment. Moreover, combined insight concerning phenotypes and genotypes is crucial for impr...
Autores principales: | Areblom, Maria, Kjellström, Sten, Andréasson, Sten, Öhberg, Anders, Gränse, Lotta, Kjellström, Ulrika |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379620/ https://www.ncbi.nlm.nih.gov/pubmed/37510321 http://dx.doi.org/10.3390/genes14071413 |
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