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GNAI2 and Regulators of G protein Signaling as a potential Noonan Syndrome mechanism
Noonan syndrome (NS OMIM 163950) is a relatively common autosomal dominant developmental disorder characterized by short stature, specific facial features, and congenital cardiac anomalies. Approximately 50–66% of cases have defined mutations in the K-ras/Raf/MEK/ERK pathway that lead to constitutiv...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2009
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2674134/ https://ncbi.nlm.nih.gov/pubmed/19282110 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mehy.2009.01.040 |
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