Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes
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Title
Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 22, Issue 2, Pages 262-270
Publisher
Oxford University Press (OUP)
Online
2012-10-12
DOI
10.1093/hmg/dds426
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- (2010) Timothy J. R. Harris et al. Nature Reviews Clinical Oncology
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- Noonan, Costello and cardio–facio–cutaneous syndromes: dysregulation of the Ras–MAPK pathway
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