Associated Papers
SOS GEFs in health and disease.
Baltanás FC et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2020
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2020
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F et al.
Human Mutation, 2011
21387466 (PubMed )
Supplement: humu0032-0760-SD1.pdf
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
Longoni M et al.
American Journal of Medical Genetics. Part A, 2010
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y et al.
Journal of Human Genetics, 2008
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M et al.
Journal of Medical Genetics, 2007
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