학술논문
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility
Document Type
Article
Author
Ascari, G.; Rosseel, T.; Lambrechts, N.; Van Laethem, T.; De Jaegere, S.; Guillemyn, B.; Leroy, B.P.; De Baere, E.; Coppieters, F.; Peelman, F.; Farinelli, P.; Wunderlich, K.A.; Rivolta, C.; Martens, P.; Pedersen, L.B.; Wagner, M.; Nikopoulos, K.; Balikova, I.; Walraedt, S.; Derycke, L.; Holtappels, G.; Krysko, O.; Bachert, C.; De Rycke, R.; De Bleecker, J.; Creytens, D.; Van Dorpe, J.; Gerris, J.; Neuhofer, C.; Bischoff, A.; Klopstock, T.
Source
In: Human Mutation . (Human Mutation, 1 May 2020, 41(5):998-1011)
Subject
Language
English
ISSN
10981004
10597794
10597794