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Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance

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Key Points ADAMTS13 sSNVs affect mRNA thermodynamic stability and may disturb mRNA-splicing sites. Synonymous variations may affect ADAMTS13 function and contribute to large variability in protein expression levels in healthy… Click to show full abstract

Key Points ADAMTS13 sSNVs affect mRNA thermodynamic stability and may disturb mRNA-splicing sites. Synonymous variations may affect ADAMTS13 function and contribute to large variability in protein expression levels in healthy individuals.

Keywords: synonymous adamts13; variants impact; variability; adamts13 variants; impact molecular; protein

Journal Title: Blood Advances
Year Published: 2022

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