Condition: CILIARY DYSKINESIA, PRIMARY, 18
rs397514561
in
DNAAF5
gene and
CILIARY DYSKINESIA, PRIMARY, 18
PMID 23040496
2012 Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
PMID 25232951
2014 HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.