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Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency.

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Bibliographic Details
Title: Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency.
Authors: Mousawi, Zahraa1 (AUTHOR), Choukeir, Maysa1 (AUTHOR), Jaffal, Lama1,2 (AUTHOR), Karam, Louna3 (AUTHOR), Assi, Alexandre4 (AUTHOR), Ibrahim, José-Noel3 (AUTHOR), Chebly, Alain5 (AUTHOR), El Shamieh, Said1 (AUTHOR) s.elshamieh@bau.edu.lb
Source: Ophthalmic Genetics. Oct2025, Vol. 46 Issue 5, p440-446. 7p.
Database: Academic Search Ultimate
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ISSN:13816810
DOI:10.1080/13816810.2025.2495945