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Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease |
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| Authors: | Mubeen Khan,St phanie S. Cornelis,Muhammad Imran Khan,Duaa Elmelik,Eline Manders,Sem Bakker,Ronny Derks,Kornelia Neveling,Maartje van de Vorst,Christian Gilissen,Isabelle Meunier,Sabine Defoort,Bernard Puech,Aurore Devos,Heidi L. Schulz,Heidi St hr,Felix Grassmann,Bernhard H. F. Weber,Claire‐Marie Dhaenens,Frans P. M. Cremers |
| Affiliation: | Mubeen Khan,Stéphanie S. Cornelis,Muhammad Imran Khan,Duaa Elmelik,Eline Manders,Sem Bakker,Ronny Derks,Kornelia Neveling,Maartje van de Vorst,Christian Gilissen,Isabelle Meunier,Sabine Defoort,Bernard Puech,Aurore Devos,Heidi L. Schulz,Heidi Stöhr,Felix Grassmann,Bernhard H. F. Weber,Claire‐Marie Dhaenens,Frans P. M. Cremers |
| Abstract: | |
| Keywords: | ABCA4 deep‐intronic variants next generation sequencing smMIPs Stargardt disease |