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Document type:
Zeitschriftenaufsatz
Author(s):
Ascari, Giulia; Peelman, Frank; Farinelli, Pietro; Rosseel, Toon; Lambrechts, Nina; Wunderlich, Kirsten A.; Wagner, Matias; Nikopoulos, Konstantinos; Martens, Pernille; Balikova, Irina; Derycke, Lara; Holtappels, Gabriële; Krysko, Olga; Van Laethem, Thalia; De Jaegere, Sarah; Guillemyn, Brecht; De Rycke, Riet; De Bleecker, Jan; Creytens, David; Van Dorpe, Jo; Gerris, Jan; Bachert, Claus; Neuhofer, Christiane; Walraedt, Sophie; Bischoff, Almut; Pedersen, Lotte B.; Klopstock, Thomas; Rivolta, Carl...     »
Title:
Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
Journal title:
Human Mutation
Year:
2020
Journal volume:
41
Journal issue:
5
Pages contribution:
998-1011
Fulltext / DOI:
doi:10.1002/humu.23993
Publisher:
Wiley
E-ISSN:
1059-77941098-1004
Date of publication:
12.02.2020
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