Article
Stochastic phenotypes in RAS-dependent developmental diseases.
Current biology : CB - 13 Mar 2023
Marmion Robert A, Simpkins Alison G, Barrett Lena A, Denberg David W, Zusman Susan, Schottenfeld-Roames Jodi, Schüpbach Trudi, Shvartsman Stanislav Y
Abstract excerpt
Germline mutations upregulating RAS signaling are associated with multiple developmental disorders. A hallmark of these conditions is that the same mutation may present vastly different phenotypes in different individuals, even in monozygotic twins. Here, we demonstrate how the origins of such largely unexplained phenotypic variations may be dissected using highly controlled studies in Drosophila that have been...
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