Cargando…
CDKL5 variants: Improving our understanding of a rare neurologic disorder
OBJECTIVE: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. METHODS: We analyzed all known potentially pathogenic CDKL5 variants by com...
| Autores principales: | , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2017
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732004/ https://www.ncbi.nlm.nih.gov/pubmed/29264392 http://dx.doi.org/10.1212/NXG.0000000000000200 |