RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

Authors: Vooren EV, den Broeck FV, Mahieu Q, Geens E, Heetvelde MV, De Bruyne M, de Sompele SV, Uppal S, Poliakov E, Dhaenens CM, Gregory-Evans CY, Hoefsloot L, Gonzalez AI, Kohl S, Zuleger T, Demaret T; Dominant RPE65-p.(E519K) Consortium; Tuupanen S, Ruys J, Os LV, Platteau E, Jacob J, Vermeer S, Postelmans L, Dahan K, Maystadt I, Rasquin F, Thiadens AAHJ, Stephenson KAJ, Sheri N, Smirnov V, MacDonald IM, Gregory-Evans K, Redmond TM, De Zaeytijd J, Leroy BP, Bauwens M, De Baere E.

Citation: Res Sq [Preprint]. 2025 May 5:rs.3.rs-5849564. doi: 10.21203/rs.3.rs-5849564/v2

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Specialties:  Genetics