Publication: Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29
| dc.contributor.authors | Geckinli, B. B.; Turkyilmaz, A.; Alavanda, C.; Taslidere, H.; Sager, G.; Ates, E. Arslan; Soylemez, M. A.; Arman, A. | |
| dc.date.accessioned | 2022-03-10T18:00:43Z | |
| dc.date.accessioned | 2026-01-11T15:16:59Z | |
| dc.date.available | 2022-03-10T18:00:43Z | |
| dc.date.issued | 2020 | |
| dc.identifier.doi | doiWOS:000598482603448 | |
| dc.identifier.eissn | 1476-5438 | |
| dc.identifier.issn | 1018-4813 | |
| dc.identifier.uri | https://hdl.handle.net/11424/222311 | |
| dc.identifier.wos | WOS:000598482603448 | |
| dc.language.iso | eng | |
| dc.publisher | SPRINGERNATURE | |
| dc.relation.ispartof | EUROPEAN JOURNAL OF HUMAN GENETICS | |
| dc.rights | info:eu-repo/semantics/closedAccess | |
| dc.title | Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29 | |
| dc.type | conferenceObject | |
| dc.type.sub | meetingabstract | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 1013 | |
| oaire.citation.issue | SUPPL 1 | |
| oaire.citation.startPage | 1012 | |
| oaire.citation.title | EUROPEAN JOURNAL OF HUMAN GENETICS | |
| oaire.citation.volume | 28 |
