Associated Papers
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Gras D et al.
Annals of Neurology, 2017
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
Select a paper to view details