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Evaluating Diagnostic Challenges With ABCA4-Related Retinal Disease – Experience With a 7500 IRD Patient Cohort Sent for Genetic Diagnostics

ESHG 2020: European Human Genetics Virtual Conference
Virtual [in-person conference canceled], June 6-9, 2020

Evaluating diagnostic challenges with ABCA4-related retinal disease - experience with a 7500 IRD patient cohort sent for genetic diagnostics

Authors: Känsäkoski J, Kämpjärvi K, Tuupanen S, Wells K, Sarantaus L, von Nandelstadh P, Merkkiniemi K, Västinsalo H, Mårtensson E, Carro RP, Sankila E-M, Koskenvuo JW, Myllykangas S, Alastalo T-P

Specialties: genetics