An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.
Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A, Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y, Fukami M.
Katoh-Fukui Y, et al. Among authors: kaname t.
Hum Genome Var. 2018 Mar 8;5:18006. doi: 10.1038/hgv.2018.6. eCollection 2018.
Hum Genome Var. 2018.
PMID: 29531775
Free PMC article.