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11. Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data. Burnight ER; Fenner BJ; Han IC; DeLuca AP; Whitmore SS; Bohrer LR; Andorf JL; Sohn EH; Mullins RF; Tucker BA; Stone EM Hum Mol Genet; 2024 Aug; 33(16):1379-1390. PubMed ID: 37930186 [TBL] [Abstract][Full Text] [Related]
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14. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease. Sangermano R; Bax NM; Bauwens M; van den Born LI; De Baere E; Garanto A; Collin RW; Goercharn-Ramlal AS; den Engelsman-van Dijk AH; Rohrschneider K; Hoyng CB; Cremers FP; Albert S Ophthalmology; 2016 Jun; 123(6):1375-85. PubMed ID: 26976702 [TBL] [Abstract][Full Text] [Related]
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