Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.
Hofrichter MAH, Doll J, Habibi H, Enayati S, Vahidi Mehrjardi MY, Müller T, Dittrich M, Haaf T, Vona B. Eur J Med Genet. 2019 Oct; 62(10):103724. Epub 2019 Jul 14.