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The common ABCA4 variant p.Asn1868Ile shows nonpenetrance and variable expression of stargardt disease when present in trans with severe variants

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Bibliographic Details
Main Authors: Runhart, Esmee (Author) , Rohrschneider, Klaus (Author)
Format: Article (Journal)
Language:English
Published: 15 May 2018
In: Investigative ophthalmology & visual science
Year: 2018, Volume: 59, Issue: 8, Pages: 3220-3231
ISSN:1552-5783
DOI:10.1167/iovs.18-23881
Online Access:Verlag, Volltext: https://doi.org/10.1167/iovs.18-23881
Verlag, Volltext: https://iovs.arvojournals.org/article.aspx?articleid=2686996
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Author Notes:Esmee H. Runhart, Riccardo Sangermano, Stéphanie S. Cornelis, Joke B.G.M. Verheij, Astrid S. Plomp, Camiel J.F. Boon, Dorien Lugtenberg, Susanne Roosing, Nathalie M. Bax, Ellen A.W. Blokland, Marlie H.M. Jacobs-Camps, Saskia D. van der Velde-Visser, Jan-Willem R. Pott, Klaus Rohrschneider, Alberta A.H.J. Thiadens, Caroline C.W. Klaver, L. Ingeborgh van den Born, Carel B. Hoyng, and Frans P.M. Cremers

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