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PHM and PAL activity in human sera. Assays for PHM and PAL activity were carried out on sera from individuals harboring variants showing deleterious effects in in vitro assays (p.Asp563Gly, p.Arg703Gln, and p.His778fs), subjects with more benign variants (p.Val27Ile and p.Val49Leu), and controls (WT). In NIH36, the p.Phe31Tyr variant occurs along with the 5’UTR c.-133T>C variant. The dashed line at 0.5 indicates the activity level expected with one completely inactive allele.
