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Targeted Sequencing and In Vitro Splice Assays Shed Light on ABCA4-Associated Retinopathies Missing Heritability

Targeted Sequencing and In Vitro Splice Assays Shed Light on ABCA4-Associated Retinopathies Missing Heritability

Authors: Corradi Z, Khan M, Hitti-Malin R, Mishra K, Whelan L, Cornelis SS; ABCA4-Study Group; Hoyng CB, Kämpjärvi K, Klaver CCW, Liskova P, Stohr H, Weber BHF, Banfi S, Farrar GJ, Sharon D, Zernant J, Allikmets R, Dhaenens CM, Cremers FPM

Citation: HGG Adv. 2023 Sep 12:100237. doi: 10.1016/j.xhgg.2023.100237. Online ahead of print.

Specialties: Genetics, Oncology

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

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