The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
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DOI: 10.1038/s41431-020-0662-4
Abstract: Specific activating missense HRAS variants cause Costello syndrome (CS), a RASopathy with recognizable facial features. The majority of these dominant disease causing variants affect the glycine residues in position 12 or 13. A clinically suspected… read more here.
Keywords: novel duplication; 186 206dup; duplication hras; hras 186 ... See more keywords