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Published in 2017 at "Nature Genetics"
DOI: 10.1038/ng.3780
Abstract: Germline mutations in Ras pathway components are associated with a large class of human developmental abnormalities, known as RASopathies, that are characterized by a range of structural and functional phenotypes, including cardiac defects and neurocognitive…
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Keywords:
mek variants;
intrinsically active;
divergent effects;
active mek ... See more keywords