Ebooks (Sách điện tử)Authors : Gersing, Sarah (2023)
Amino acid substitutions can perturb protein activity in multiple ways. Understanding
14 their mechanistic basis may pinpoint how residues contribute to protein function. Here, we
15 characterize the mechanisms of human glucokinase (GCK) variants, building on our previous
16 comprehensive study on GCK variant activity. We assayed the abundance of 95% of GCK
17 missense and nonsense variants, and found that 43% of hypoactive variants have&#x... 
