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SET de novo frameshift variants associated with developmental delay and intellectual disabilities

Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to b...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Richardson, Ruth, Splitt, Miranda, Newbury-Ecob, Ruth, Hulbert, Alice, Kennedy, Joanna, Weber, Astrid
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6117329/
https://ncbi.nlm.nih.gov/pubmed/29907757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0199-y
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