A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond –Blackfan anemia

Human Mutation, EarlyView.

Source: Human Mutation - May 29, 2018 Category: Genetics & Stem Cells Authors: AnnaAspesi , MartaBetti , MarikaSculco , ChiaraActis , CristinaOlgasi , Marcin W.Wlodarski , AdriannaVlachos , Jeffrey M.Lipton , UgoRamenghi , ClaudioSantoro , AntoniaFollenzi , Steven R.Ellis , IrmaDianzani Source Type: research