Associated Papers
SCN8A mutation in a child presenting with seizures and developmental delays.
Malcolmson J et al.
Cold Spring Harbor Molecular Case Studies, 2016
27900360 (PubMed )
Supplement: supp_mcs.a001073_Supplementary_Table_1.xlsx › VAAST_results_39010_denovo.csv
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R et al.
Cold Spring Harbor Molecular Case Studies, 2016
27900361 (PubMed )
Supplement: supp_mcs.a001131_Supp_File_4_Tables_1-3.zip › Supplementary_Table_1.xlsx › VAAST_results_38836_denovo.csv
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