ロード中...
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...
保存先:
| 出版年: | Neurol Genet |
|---|---|
| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer
2017
|
| 主題: | |
| オンライン･アクセス: | 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 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|