Gene: CCDC114

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs147718607 in CCDC114 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 23261303 2013 Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

rs147718607 in CCDC114 gene and Ciliary Motility Disorders PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 23261303 2013 Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.