Case report
Open access
Jan 2026
Functional Validation of a Novel Homozygous TTN Splice‐Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy
The TTN gene encodes a crucial structural protein within cardiac sarcomeres, and its variants may contribute to hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy; however, phenotype and genotype are different. Whole‐exome sequencing (WES) was conducted on a Chinese proband diagnosed with HCM. In silico splic...
Xiao-Yun Sun, Dan-Dan Wang, Shu-Juan Wang et al.
· Human Mutation · 0 citations