https://oridonininhibitor.com/....the-effects-involvin
We identified a previously unreported synonymous variant c.942GA p.K314K in DKC1, the gene encoding the dyskerin ribonucleoprotein, which can be required for telomerase RNA biogenesis. The mutation produced a competing de novo exonic splicing enhancer, while the misspliced item ended up being degraded by nonsense-mediated decay causing a general dyskerin deficiency in mutation providers. In silico tools identified other rare silent DKC1 variants that warrant useful evaluation if found in patients
Like
Comment
Share
