Unraveling the role of a synonymous SEC24D variant in aberrant splicing in Cole-Carpenter Syndrome 2

SÜNCAK S., TÜYSÜZ B., YILDIRIM R. N., GÜRSOY S., ULUDAĞ ALKAYA D., ABACI A., ...More

58th European Society of Human Genetics (ESHG) Conference, Milan, Italy, 24 - 27 May 2025, vol.33, pp.214, (Summary Text)

  • Publication Type: Conference Paper / Summary Text
  • Volume: 33
  • City: Milan
  • Country: Italy
  • Page Numbers: pp.214
  • Dokuz Eylül University Affiliated: Yes