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A new eye on inherited retinal disease: Rare diseases复制

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BJ Fenner, CY Cheng
Nature Machine Intelligence, 2025
nature.com
Inherited retinal diseases are both numerous and diverse, but all arise from genetic mutations leading to retinal degeneration. Through the use of modern diagnostic tools, accurate genotype prediction is now possible using high-resolution imaging techniques alone, facilitating improved screening and genetic variant prioritization.

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