Article

A <i>Drosophila</i> model for Costello Syndrome caused by Ras mutation K117R

2025-02-04

Abstract excerpt

<h4>ABSTRACT</h4> Germline mutations that increase signaling through the Ras pathway can cause developmental disorders called RASopathies. The RASopathy Costello syndrome has been described to present with hallmarks that include short stature, intellectual disability, cardiac issues, and characteristic facial abnormalities and has been associated with gain-of-function mutations in HRas. The most common HRas mutat...

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Literature Corpus work: 636b6a1e-0d12-50b1-a60c-ec8868cf85b1
DOI: 10.1101/2025.02.03.635762

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