382 SIRT3 and SIRT5 stabilize and activate the enzymatic activity of SHMT2 by its deacetylase and desuccinylase activity, respectively, thereby promoting the serine catabolism to drive carcinogenesis
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doi:10.3389/fmicb.2015.00742
Some disease-associated mutations, such as the cystic fibrosis allele in Europeans or -globin variants in African populations, occur at frequencies above 1%, technically qualifying as polymorphisms
