Associated Papers
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.
Chen X et al.
Experimental and Therapeutic Medicine, 2020
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
Onoufriadis A et al.
American Journal of Human Genetics, 2013
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