Associated Papers
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM et al.
Cilia, 2016
27069622 (PubMed )
Supplement: 13630_2016_29_MOESM1_ESM.xls › Total_variants
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