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Listar por autor "Botey Bataller, María"

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Correlación fenotipo-genotipo de variantes frameshift causantes de distrofias hereditarias de la retina

Botey Bataller, María (Universitat Politècnica de València, 2024-07-19)

[EN] Hereditary retinal dystrophies are a group of retinal disorders associated with more than 280 genes, including the Cone-Rod Homebox (CRX) gene, which encodes a transcription factor that is key in the terminal regulation ...

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