Article
In vivo severity ranking of Ras pathway mutations associated with developmental disorders.
Proceedings of the National Academy of Sciences of the United States of America - 17 Jan 2017
Jindal Granton A, Goyal Yogesh, Yamaya Kei, Futran Alan S, Kountouridis Iason, Balgobin Courtney A, Schüpbach Trudi, Burdine Rebecca D, Shvartsman Stanislav Y
Abstract excerpt
Germ-line mutations in components of the Ras/MAPK pathway result in developmental disorders called RASopathies, affecting about 1/1,000 human births. Rapid advances in genome sequencing make it possible to identify multiple disease-related mutations, but there is currently no systematic framework for translating this information into patient-specific predictions of disease progression. As a first step toward...
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