Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
SUFU基因的杂合截断变异会导致先天性眼动失用症
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-00979-w
Schröder, Simone; Li, Yun; Yigit, Gökhan; Altmüller, Janine; Bader, Ingrid; Bevot, Andrea; Biskup, Saskia; Dreha-Kulaczewski, Steffi; Christoph Korenke, G; Kottke, Raimund; Mayr, Johannes A; Preisel, Martin; Toelle, Sandra P; Wente-Schulz, Sarah; Wortmann, Saskia B; Hahn, Heidi; Boltshauser, Eugen; Uhmann, Anja; Wollnik, Bernd; Brockmann, Knut