A carregar...

De novo mutations in regulatory elements in neurodevelopmental disorders

We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or other genes, has been essentially unexplored. We i...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Nature
Main Authors: Short, Patrick J., McRae, Jeremy F., Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H., Wright, Caroline F., Firth, Helen V, FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5912909/
https://ncbi.nlm.nih.gov/pubmed/29562236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature25983
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!