Associated Papers
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Lucia-Campos C et al.
Frontiers in Genetics, 2024
39553472 (PubMed )
Supplement: Table2.XLSX › Supplementary_Table_1
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
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