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Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping

Somayyeh Fahiminiya,Spyros Oikonomopoulos,Georges-Etienne Rivard,Mira Gandhi,Patrick Scott,Alexandre Montpetit,Shu-Huang Chen,KyungHee Park,Catherine Vezina,Jiannis Ragoussis,Claudia M. B. Carvalho,Grant A. Mitchell,Jean-Francois Soucy,Julie Gauthier

Haemophilia : the official journal of the World Federation of Hemophilia（2023）

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