Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility
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| Description | scientific article published on 30 January 2020 |
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author: Claus Bachert Frauke Coppieters Christiane Neuhofer Toon Rosseel David Creytens Jo Van Dorpe Nina Lambrechts Giulia Ascari Matias Wagner Thomas Klopstock Brecht Guillemyn Frank Peelman Elfride De Baere Konstantinos Nikopoulos Kirsten A Wunderlich Lara Derycke Riet De Rycke Irina Balikova Bart Leroy Carlo Rivolta Olga Krysko Lotte Bang Pedersen Pietro Farinelli |
| Publication date | January 30, 2020 |
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