BeHeard Award 2018: Diseases of Glycosylation, Arginine Mutagenesis, & Neural Development
Type
Blog Post
Published
June 26, 2018, 1:33 p.m.
...These diseases are characterized by overgrowth phenotypes and neural developmental delay. Mutations in ...in loss of function or dominant negative NFIX phenotypes.
Developing a rapid test for the functional ...