Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. | 23261302 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. | 23261303 | 2013 |