A novel spliceosomopathy caused by de novo SF3B3 variants - PubMed
2 days ago
- #de novo mutations
- #spliceosomopathy
- #SF3B3
- A novel spliceosomopathy caused by de novo SF3B3 variants.
- Study obtained institutional review board approval (IRB-BURLO 01/2022 09.02.2022) and informed consent from participants.
- Authors declare no competing interests, with some exceptions related to advisory roles and royalties.
- References include studies on de novo mutations in developmental disorders and congenital heart disease.
- Grants and funding sources include Italian Ministry of Health, National Human Genome Research Institute, and others.