Associated Papers
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman T et al.
Annals of Neurology, 2018
Novel SCN3A variants associated with focal epilepsy in children.
Vanoye CG et al.
Neurobiology of Disease, 2014
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