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A novel SHOC2 variant in Rasopathy

Rasopathies are a group of genetic disorders caused by germline mutations in multiple genes of the Extracellular signal-Regulated Kinases 1 and 2 (ERK1/2) pathway. The only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with lo...

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Detalhes bibliográficos
Main Authors: Hannig, Vickie, Jeoung, Myoungkun, Jang, Eun Ryoung, Phillips, John A., Galperin, Emilia
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4213265/
https://ncbi.nlm.nih.gov/pubmed/25137548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22634
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