Publications by authors named "Evine Meurisse"
Article Synopsis
- Pathogenic variants in a specific gene lead to an autosomal dominant syndrome characterized by developmental delays and heart issues.
- The study focused on two variants near the splice site of exon 7, which were predicted to either skip exon 7 or activate an alternative splice site, affecting protein function.
- RNA analysis confirmed these variants led to intron retention, causing a frameshift and early termination of protein translation, emphasizing the need for both predictive and experimental methods to understand genetic variants' impacts.
