학술논문
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Document Type
Journal
Author
Shashi, Vandana; Schoch, Kelly; Ganetzky, Rebecca; Kranz, Peter G.; Sondheimer, Neal; Markert, M. Louise; Cope, Heidi; Sadeghpour, Azita; Roehrs, Philip; Arbogast, Thomas; Muraresku, Colleen; Undiagnosed Dis Network, Undiagnosed Diseases; Tyndall, Amanda V.; Esser, Michael J.; Woodward, Kristine E.; Au, Billie Ping-Yee; Parboosingh, Jillian S.; Lamont, Ryan E.; Bernier, Francois P.; Wright, Nicola A. M.; Benseler, Susa M.; Parsons, Simon J.; El-Dairi, Mays; Smith, Edward C.; Valdez, Purnima; Tennison, Michael; Innes, A. Micheil; Davias, Erica E.
Source
Subject
Language
English
ISSN
15300366