The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency.

van Dijk SJ, Kooiker KBezold, Mazzalupo S, et al. "The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency." Arch. Biochem. Biophys.. 2016.