Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29
EUROPEAN JOURNAL OF HUMAN GENETICS, vol.28, no.SUPPL 1, pp.1012-1013, 2020 (SCI-Expanded, Scopus)
- Publication Type: Article / Abstract
- Volume: 28 Issue: SUPPL 1
- Publication Date: 2020
- Journal Name: EUROPEAN JOURNAL OF HUMAN GENETICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
- Page Numbers: pp.1012-1013
- Istanbul University Affiliated: Yes