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Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia

Authors


e-mail: rsingaraja@tlgm.a-star.edu.sg

Abstract

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

Onoufriadis et al. (2013)

American Journal of Human Genetics 92:88–98.

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

Knowles et al. (2013)

American Journal of Human Genetics 92:99–106.

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