Functional characterization of the first missense variant...

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Human Mutation 2020 / 01

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

Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A., Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara,
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Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23993
Date:
January, 2020
File:
PDF, 1.52 MB
english, 2020
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