A carregar...

Duplications at 19q13.33 in patients with neurodevelopmental disorders

OBJECTIVE: After the recent publication of the first patients with disease-associated missense variants in the GRIN2D gene, we evaluate the effect of copy number variants (CNVs) overlapping this gene toward the presentation of neurodevelopmental disorders (NDDs). METHODS: We explored ClinVar (number...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5820601/
https://ncbi.nlm.nih.gov/pubmed/29473046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000210
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!