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Publication : NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.

First Author  Kremer LS Year  2016
Journal  Am J Hum Genet Volume  99
Issue  4 Pages  894-902
PubMed ID  27616477 Mgi Id 
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