1. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. (26th October 2020) Authors: Nistala, Harikiran; Dronzek, John; Gonzaga-Jauregui, Claudia; Chim, Shek Man; Rajamani, Saathyaki; Nuwayhid, Samer; Delgado, Dennis; Burke, Elizabeth; Karaca, Ender; Franklin, Matthew C; Sarangapani, Prasad; Podgorski, Michael; Tang, Yajun; Dominguez, Melissa G; Withers, Marjorie; Deckelbaum, Ron... Journal: Human molecular genetics Issue: Volume 29:Number 21(2020) Page Start: 3516 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗