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(HOGENT University of Applied Sciences and Arts)
Human Mutation
January 30, 2020
10.1002/humu.23993
Cited by 22

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