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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Hlavní autoři:	Alex Gileles-Hillel, Hagar Mor-Shaked, David Shoseyov, Joel Reiter, Reuven Tsabari, Avigdor Hevroni, Malena Cohen-Cymberknoh, Israel Amirav, Shuli Brammli-Greenberg, Amjad Horani, Eitan Kerem, Oded Breuer
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	European Respiratory Society 2020-12-01
Edice:	ERJ Open Research
On-line přístup:	http://openres.ersjournals.com/content/6/4/00213-2020.full
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