Functional characterization of the first missense variant in <i>CEP78</i> , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

Giulia Ascari(Ghent University Hospital), Frauke Coppieters(Ghent University Hospital)

Human Mutation

January 30, 2020

10.1002/humu.23993

Cited by 22

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