Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.

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Title: Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Authors: Demas, Nicholas1 (AUTHOR), Estrada, Cesar2 (AUTHOR), Morales, Paula2 (AUTHOR), Jacobs, Mitchell1 (AUTHOR), Kitchens, John1 (AUTHOR), Pearson, Andrew1 (AUTHOR), Maldonado, Ramiro2 (AUTHOR) ramiro.maldonado@duke.edu
Source: BMC Medical Genomics. 8/28/2025, Vol. 18 Issue 1, p1-12. 12p.
Database: Academic Search Ultimate
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  Data: Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
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  Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genomics%22">BMC Medical Genomics</searchLink>. 8/28/2025, Vol. 18 Issue 1, p1-12. 12p.
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        Value: 10.1186/s12920-025-02186-5
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        Text: English
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      – TitleFull: Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
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              Text: 8/28/2025
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              Y: 2025
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