Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report.
Liya WangWenshan ZengYeqing QianYixi SunMin ChenBei LiuJunjie HuPing YuMin-Yue DongPublished in: Molecular genetics & genomic medicine (2024)
Our finding confirmed the pathogenicity of c.291G >A, thus extending the pathogenic mutation spectrum of F7, and providing insights for effective reproductive counseling.