https://rg-7112inhibitor.com/d....iagnosis-regarding-l
Copy number variations were determined by implementing copy number variation-sequencing (CNV-seq). In silico modeling predicted the pathogenicity of the identified variant. To determine the mutation's influence on splicing, we carried out mRNA transcript analysis and a minigene reporter assay. Software analysis determined the c.709TA and c.711GT mutations within the ANOS1 gene to be pathogenic, while the c.1063-2AT m