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ABCA4 C.859-25A>g, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, is Associated with Early-Onset Stargardt Disease

Zelia Corradi,Manar Salameh,Mubeen Khan,Elise Heon,Ketan Mishra,Rebekkah J. Hitti-Malin,Yahya AlSwaiti,Alice Aslanian,Eyal Banin,Brian P. Brooks,Wadih M. Zein,Robert B. Hufnagel,Susanne Roosing,Claire-Marie Dhaenens,Dror Sharon,Frans P. M. Cremers,Alaa AlTalbishi

Investigative Ophthalmology & Visual Science（2022）

引用 4|浏览30
关键词
ABCA4,Stargardt disease,SpliceAI,splice defect,founder mutation
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