Articles with "variants predicted" as a keyword



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Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing

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Published in 2021 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms22084154

Abstract: It is estimated that up to one-third of all variants causing inherited diseases affect splicing; however, their deleterious effects and roles in disease pathogenesis are often not fully characterized. Given their prevalence and the development… read more here.

Keywords: variants predicted; affect splicing; pcca pccb; predicted affect ... See more keywords