Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. [electronic resource]
- American journal of human genetics 06 2019
- 1223-1232 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2019.04.013 doi
Adult Child Female Gain of Function Mutation Genetic Association Studies Guanosine Triphosphate--metabolism HEK293 Cells Humans Infant Infant, Newborn Male Membrane Proteins--chemistry Monomeric GTP-Binding Proteins--chemistry Noonan Syndrome--etiology Pedigree Protein Conformation