Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
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DOI: 10.1007/s00439-018-1951-7
Abstract: RASopathies are a group of developmental disorders caused by mutations in genes that regulate the RAS/MAPK pathway and include Noonan syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome and other related disorders. Whole exome sequencing studies recently… read more here.
Keywords: raf1 ppp1cb; noonan syndrome; mutation positive; ppp1cb ... See more keywords