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American Journal of Medical Genetics. Part A|August 18, 2017
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathySusann Weissbach, Marie-Christine Reinert, Janine Altmüller, et al.Nature Communications|October 12, 2017
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorderPeter Huppke, Susann Weissbach, Joseph A Church, et al.Pageof 1