Associated Papers
Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia.
Wang R et al.
Frontiers in Genetics, 2021
33719352 (PubMed )
Supplement: Table_2.xlsx › Table_S2
Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.
Zhang W et al.
Journal of Human Genetics, 2019
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij R et al.
American Journal of Human Genetics, 2014
25192045 (PubMed )
Supplement: mmc1.pdf
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