https://www.selleckchem.com/products/en460.html
Among the approximately 8000 Mendelian disorders, 1000 have cutaneous manifestations. In many of these conditions, the underlying mutated genes have been identified by DNA-based techniques which, however, can overlook certain types of mutations, such as exonic-synonymous and deep-intronic sequence variants. Whole-transcriptome sequencing by RNA sequencing (RNA-seq) can identify such mutations and provide information about their consequences. We analyzed the whole transcriptome of 40 families with different types of Mendelian skin diso
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