Associated Papers
A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder.
Zech M et al.
Cold Spring Harbor Molecular Case Studies, 2018
30262571 (PubMed )
Supplement: supp_mcs.a003293_Supplemental_Figures_Table.pdf
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13
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