https://www.selleckchem.com/pr....oducts/mevastatin.ht
Both carry the splice donor variant c.1029+2TC in trans with a variant in the FHA domain (c.311TC, p.(Leu104Pro); c.151GC, p.(Val51Leu)). RNA-seq showed complex splicing for c.1029+2TC and c.151GC. Structural modeling revealed significant clustering of missense variants in the FHA domain with variants generating structural damage. Our clinical description extends the PNKP-continuum to the prenatal stage. Investigating possible PNKP-variant effects using RNA and structural modeling, we highlight the mutational comp
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