In Blackburn et al. (2017), the novel frameshift deletion variant that appeared throughout the article was published as:“c.4485_4500del, p.Tyr1495X”It should have read as:“c.4485_4500del, p.Trp1495X”We also referred to a nonsense variant reported in Klein et al. (2012) (https://doi.org/10.1002/humu.22136) in their supplemental Table S1b as ‘c.4485G>A; p.Tyr1495X,’ that results in an equivalent protein truncation. This variant should also be reported as c.4485G>A, p.Trp1495X.We apologize for this error.
Authors: Patrick R Blackburn; Duygu Selcen; Jennifer M Gass; Jessica L Jackson; Sarah Macklin; Margot A Cousin; Nicole J Boczek; Eric W Klee; Elliot L Dimberg; Kathleen D Kennelly; Paldeep S Atwal Journal: Mol Genet Genomic Med Date: 2017-03-30 Impact factor: 2.183