Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform

American Journal of Medical Genetics Part A, EarlyView.

Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: AnjaliSadhwani , Neville E.Sanjana , Jennifer M.Willen , Stephen N.Calculator , Emily D.Black , Lora J. H.Bean , HongLi , Wen ‐HannTan Source Type: research