Sandbox Reserved 1790: Difference between revisions
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==RASopathies== | ==RASopathies== | ||
RASopathy is a broad term used to describe developmental syndromes that stem from [https://www.sciencedirect.com/topics/medicine-and-dentistry/germline-mutation. germline mutations] of proteins along the RAS/MAPK pathway such as SHOC2, PP1C, and MRAS. These mutations can be either gain or loss of function. Rasopathies can also lead to cancer <ref name=”Rauen”> | RASopathy is a broad term used to describe developmental syndromes that stem from [https://www.sciencedirect.com/topics/medicine-and-dentistry/germline-mutation. germline mutations] of proteins along the RAS/MAPK pathway such as SHOC2, PP1C, and MRAS. These mutations can be either gain or loss of function. Rasopathies can also lead to cancer <ref name=”Rauen”>Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet. 2013;14:355-69. [http://dx.doi.org/10.1146/annurev-genom-091212-153523 doi: 10.1146/annurev-genom-091212-153523.]</ref>. | ||
==Cancer== | ==Cancer== | ||
