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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Neurol Genet
Egile Nagusiak: Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Wolters Kluwer 2018
Gaiak:
Article
Sarrera elektronikoa: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
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