A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia.
Backman K, Mears WE, Waheeb A, Beaulieu Bergeron M, McClintock J, de Nanassy J, Reisman J, Osmond M, Hartley T, Mears AJ, Kernohan KD; Care4Rare Canada.
Backman K, et al. Among authors: mears we, mears aj.
Eur J Med Genet. 2021 May;64(5):104193. doi: 10.1016/j.ejmg.2021.104193. Epub 2021 Mar 18.
Eur J Med Genet. 2021.
PMID: 33746037