![]() | ![]() |
TY - `JOUR` AU - Colin, Estelle AU - Assmann, Birgit AU - Christ, Stine AU - Hoffmann, Georg F. TI - Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy PY - 2016 LA - eng SP - 9 S. T2 - The American journal of human genetics PY - 2016 VL - 99 SI - 3 SP - 695-703 DO - 10.1016/j.ajhg.2016.06.030 AN - UBHD-68216478 ER -