Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia
The diagnosis of primary ciliary dyskinesia (PCD) relies on clinical features and sophisticated studies. The detection of bi-allelic disease-causing variants confirms the diagnosis. However, a standardised genetic panel is not widely available and new disease-causing genes are continuously identifie...
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| 主要な著者: | , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
European Respiratory Society
2020-12-01
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| シリーズ: | ERJ Open Research |
| オンライン･アクセス: | http://openres.ersjournals.com/content/6/4/00213-2020.full |
| タグ: |
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