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Germline gain-of-function mutations in SOS1 cause Noonan syndrome

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Year: 2006
Type: article
Source: Nature Genetics
DOI: 10.1038/ng1926
Authors: Amy E Roberts, Toshiyuki Araki, Kenneth D Swanson, Kate T Montgomery, Taryn A Schiripo, Victoria A Joshi, Li Li, Yosuf Yassin, Alex M Tamburino, Benjamin G Neel, Raju S Kucherlapati
Institutions: Harvard University, Beth Israel Deaconess Medical Center, Massachusetts General Hospital
Language: English

Topic: Protein Tyrosine Phosphatases
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Cancer Institute, National Institute of Dental and Craniofacial Research, National Center for Research Resources, NIH Clinical Center
Awards: G1325384987, G2203245522, Signal Transduction by Non-transmembrane PTPs, Clinical Genetic and Morphometric Analysis of VCFS/DGS, General Clinical Research Center, G6307589566
OpenAlex ID: W2068804834
FWCI: 20.96
Cites: 44
Cited by: 605
Related to: 10
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