Detalhe da pesquisa
1.
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Hum Mol Genet
; 30(14): 1283-1292, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864376
2.
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
Genetics
; 224(4)2023 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37314226