Učitavanje...
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...
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| Izdano u: | Neurol Genet |
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| Glavni autori: | , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wolters Kluwer
2017
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5732004/ https://ncbi.nlm.nih.gov/pubmed/29264392 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000200 |
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