Associated Papers
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.
Sacchetto C et al.
Molecular Medicine (cambridge, Mass.), 2021
Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
Rivera-Barahona A et al.
Plos One, 2015
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