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., TAŞLIDERE H., SAĞER S. G., ARSLAN ATEŞ E., ...More

ESHG 2020, Austria, 6 - 09 June 2020, (Summary Text)

• Publication Type: Conference Paper / Summary Text
• Country: Austria
• Marmara University Affiliated: Yes