ロード中...
Mapping RNA splicing variations in clinically-accessible and non-accessible tissues to facilitate Mendelian disease diagnosis using RNA-seq
PURPOSE: RNA-seq is a promising approach to improve diagnoses by detecting pathogenic aberrations in RNA splicing that are missed by DNA sequencing. RNA-seq is typically performed on clinically-accessible tissues (CATs) from blood and skin. RNA tissue-specificity makes it difficult to identify aberr...
保存先:
| 出版年: | Genet Med |
|---|---|
| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2020
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7335339/ https://ncbi.nlm.nih.gov/pubmed/32225167 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0780-y |
| 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!
|