Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
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Sangermano , R , Garanto , A , Khan , M , Runhart , E H , Bauwens , M , Bax , N M , van den Born , L I , Khan , M I , Cornelis , S S , Verheij , J B G M , Pott , J W R , Thiadens , A A H J , Klaver , C C W , Puech , B , Meunier , I , Naessens , S , Arno , G , Fakin , A , Carss , K J , Raymond , F L , Webster , A R , Dhaenens , C M , Stöhr , H , Grassmann , F , Weber , B H F , Hoyng , C B , De Baere , E , Albert , S , Collin , R W J & Cremers , F P M 2019 , ' Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides ' , Genetics in Medicine , vol. 21 , no. 8 , pp. 1751-1760 . https://doi.org/10.1038/s41436-018-0414-9
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