CEP78
Jump to navigation
Jump to search
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Centrosomal protein of 78 kDa, also known as Cep78, is a protein that in humans is encoded by the CEP78 gene.[1][2]
Clinical
[edit | edit source]Mutations in this gene have been associated with cone-rod dystrophy with hearing loss.[3]
References
[edit | edit source]- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T1, De Jaegere S1, Guillemyn B1, De Rycke R13,14, De Bleecker J1, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F (2020) Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility. Hum Mutat
External links
[edit | edit source]- Human CEP78 genome location and CEP78 gene details page in the UCSC Genome Browser.
Further reading
[edit | edit source]- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
