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

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SÜNCAK S., Tuysuz B., Yildirim R. N., GÜRSOY S., ULUDAĞ ALKAYA D., ABACI A., ...More

58th Conference of the European-Society-of-Human-Genetics (ESHG), 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