https://www.selleckchem.com/products/bmn-673.html
For most of the 2000 CFTR gene variants reported, neither the associated disease liability nor the underlying basic defect are known, and yet these are essential for disease prognosis and CFTR-based therapeutics. Here we aimed to characterize two ultra-rare mutations - 1717-2AG (c.1585-2AG) and S955P (p.Ser955Pro) - as case studies for personalized medicine. Patient-derived rectal biopsies and intestinal organoids from two individuals with each of these mutations and F508del (p.Phe508del) in the other allele were used to ass
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