Associated Papers
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
The genetic landscape of the human solute carrier (SLC) transporter superfamily.
Schaller L et al.
Human Genetics, 2019
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
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS et al.
Neurology, 2017
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Larsen J et al.
Epilepsia, 2015
Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome.
Qian H et al.
Medicine International, 0
Select a paper to view details