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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...
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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2018
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| 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 |
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