Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.
Qiu H, Tsurumi Y, Katoh Y, Nakayama K
Sci Rep. 2022 Jan 7;12(1):31. doi: 10.1038/s41598-021-03950-0.
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