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The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Acta Ophthalmol. 2017 May;95(3):240-246. doi: 10.1111/aos.13273. Epub 2016 Oct 24.
Acta Ophthalmol. 2017.
PMID: 27775217
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