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A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype

The RASopathies are a relatively common group of phenotypically similar and genetically related autosomal dominant genetic syndromes caused by missense mutations affecting genes participating in the RAS/mitogen-activated protein kinase (MAPK) pathway that include Noonan syndrome (NS) and Noonan synd...

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Detalhes bibliográficos
Main Authors: Edwards, Jonathan J., Martinelli, Simone, Pannone, Luca, Lo, Ivan Fai-Man, Shi, Lisong, Edelmann, Lisa, Tartaglia, Marco, Luk, Ho-Ming, Gelb, Bruce D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4134745/
https://ncbi.nlm.nih.gov/pubmed/24891296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36620
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