NMIHBA Results from Hypomorphic PRUNE1 Variants That Lack Short-Chain Exopolyphosphatase Activity.
Harikiran Nistala,John Dronzek,Claudia Gonzaga-Jauregui,Shek Man Chim,Saathyaki Rajamani,Samer Nuwayhid,Dennis Delgado,Elizabeth Burke,Ender Karaca,Matthew C. Franklin,Prasad Sarangapani,Michael Podgorski,Yajun Tang,Melissa G. Dominguez,Marjorie Withers,Ron A. Deckelbaum,Christopher J. Scheonherr,William A. Gahl,May C. Malicdan,Brian Zambrowicz,Nicholas W. Gale,Richard A. Gibbs,Wendy K. Chung,James R. Lupski,Aris N. Economides Human Molecular Genetics（2020）
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