Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.
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Monnens Y, et al. Among authors: dal peraro m.
JCI Insight. 2024 Sep 10;9(17):e179276. doi: 10.1172/jci.insight.179276.
JCI Insight. 2024.
PMID: 39078710
Free PMC article.