Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29


GEÇKİNLİ B. B. , TÜRKYILMAZ A., ALAVANDA C., Taslidere H., Sager G., Ates E. A. , ...More

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.28, no.SUPPL 1, pp.1012-1013, 2020 (SCI-Expanded) identifier

  • 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
  • Marmara University Affiliated: Yes