| Property | Value |
|---|
| Working Groups |  Klopstock |
| Subproject | None |
| Open Access |  Yes |
| Publication Type | Journal Article |
| Peer Reviewed | Yes |
| PMID |  31999394 |
| DOI |  10.1002/humu.23993 |
| Publication Year | 2020 |
| 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 | Human mutation |
| ISSN | 1059-7794 |
| ESSN | 1098-1004 |
| URL | https://www.ncbi.nlm.nih.gov/pubmed/?term=31999394%5Buid%5D |
| Pages | 998-1011 |
| Issue | 5 |
| Volume | 41 |
| Journal Abbreviation | Hum Mutat |
| Authors | 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 T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, 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 |
| First Author | Ascari G |
| Last Author | Coppieters F |
| Scholia |  Wikidata-based representation at Scholia |
External Resources
Q93059816https://www.wikidata.org/wiki/Q93059816
Wikidata ID
