Article

<i>De novo</i> mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

2018-07-29

Abstract excerpt

Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies, but the matrix of genotype-phenotype relationships is still incomplete, in part because there are many RAS-related proteins, and in part because the phenotypic consequences may be variable and/or pleiotropic. Here, we describe a cohort of ten cases, drawn from six clinical sites and over 16,0...

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Literature Corpus work: d84f6296-ac72-50b1-8e5c-9b3da68a0fbe
DOI: 10.1101/378349

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<i>De novo</i> mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delayDOI 10.1101/378349Read

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